Considerations in Eyelid Reconstruction in Treacher Collins Syndrome: A Scoping Review

Abstract

Objective:

Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder with extensive associated eyelid deformities. Given its rarity and the breadth of manifestations, many treatment options have been previously described, but never summarized.

Design:

A literature review adherent to PRISMA guidelines and pertaining to surgical outcomes of TCS eyelid repair was performed. Successful surgical outcomes were defined as improvement or satisfaction as described by the authors.

Results:

A total of 144 patients and 212 procedures from 24 articles were included in this review. The mean age of first eyelid reconstruction was 13 years (range 1–36 years). Previous craniofacial surgery for malar insufficiency was performed in 57% of patients using a calvarial bone graft (n = 56), temporal osteomuscular flap (n = 21), split-rib graft (n = 3), and malar implant (n = 2). Patients underwent between 1 and 3 eyelid procedures (median 2). Most common eyelid defects included pseudocolobomas (54%), lateral canthal dystopia (38%), and true colobomas (8%). Coloboma repairs had the highest success rate (92%), followed by pseudocoloboma (80%), and lateral canthal dystopia repair (79%). Coloboma repair had the highest revision rate (13%), followed by pseudocoloboma repair (2%).

Conclusion:

TCS eyelid abnormalities most commonly present as pseudocolobomas, true colobomas, and lateral canthal dystopia. Given this diversity of presentations in TCS, surgical management must ultimately be tailored to the collective defects present with consideration of previous craniofacial reconstruction and current midface development.

Introduction

Treacher Collins syndrome (TCS) is a congenital craniofacial disorder with an estimated incidence of 1 in 50 000 live births.^1,2 It is associated with mutations in the TCOF1 gene and is inherited in an autosomal dominant pattern.³ The syndrome has been known by many names, including “Franceschetti-Klein syndrome” and “mandibulofacial dysostosis.”^4–6 However, the disease entity is most commonly referred to as Treacher Collins syndrome.

TCS affects the first and second branchial arches and can vary widely in phenotypic involvement of the maxillomandibular, ear, and periorbital regions. Generally, the disease is associated with Tessier facial clefts 6, 7, and 8. Hypoplasia or aplasia of both bony and soft tissue in affected regions can result in hearing loss, speech abnormalities, feeding, and respiratory problems, and abnormal facies.⁷ Surgery is typically indicated for these patients and implemented with a multidisciplinary approach, involving otolaryngology, audiology, speech therapy, craniofacial plastic surgery, and ophthalmology.

The ophthalmologic manifestations of TCS are particularly extensive and can involve the eyelids, orbit, lacrimal system, and/or extraocular muscles, leading to profound functional and esthetic defects. Ophthalmic sequelae may include amblyopia, strabismus, astigmatism, epiphora, and eyelid malposition. Classically, patients with TCS have downward slanted palpebral fissures due to an abnormal or absent lateral canthus.⁷ A hypoplastic orbicularis oculi muscle may contribute to decreased tone of the lower eyelid and ectropion. A general vertical insufficiency of orbital and periorbital tissue may also result in colobomas and pseudocolobomas of the eyelids.⁷ Colobomas are defined as full thickness loss of the eyelid tissue whereas pseudocolobomas involve a generalized hypoplasia of the eyelid tissue, typically at the lower eyelid margin. These abnormalities can be further exacerbated by underlying malar and inferior orbital rim hypoplasia.^8,9 This results in poor eyelid apposition and lagophthalmos, increasing the risk of exposure keratopathy, and corneal scarring.

Given the rarity of TCS and its heterogeneity of clinical presentation, a wide range of treatment options have been described to address associated eyelid anomalies. However, this also contributes to relatively small case series and thus a large body of small studies to review to understand management options for associated eyelid deformities. Herein, we perform a systematic literature review addressing surgical options for eyelid reconstruction in patients with TCS, along with applications of oculofacial plastic reconstructive techniques as adjuncts to the surgical approaches in the literature.

Methods

A scoping review of the literature adhering to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA-Scr) statement guidelines was performed.¹⁰ An electronic search was conducted across the PubMed, Embase, Web of Science, and Cochrane databases in February 2022. Search terms were consistent across databases and included the phrases- “treacher AND collins AND eyelid,” “franceschetti AND eyelid,” and “mandibulofacial AND dysostosis AND eyelid.” The titles and abstracts of resulting studies were screened for relevance to the surgical management of eyelid pathology associated with TCS. Initial screen was conducted by a single reviewer. Studies were excluded from full-text review if they (a) had no original, extractable clinical data (ie, review articles, commentaries, letters to the editor), (b) had no full-text available, (c) were published in languages other than English. If the eligibility of a study was uncertain according to the initial reviewer, it was included for full-text review. Full-text, joint review was conducted by the initial reviewer and 3 additional reviewers. Studies were reviewed as a group and included for analysis only after unanimous agreement was reached across all 4 reviewers. Data collected from the literature included patient demographics, history, and number of periorbital and craniofacial surgeries, postoperative course, outcome, and complications.

Results

The initial literature search yielded 472 studies. After removing 240 duplicates, the titles, and abstracts of 232 studies were screened, of which 36 qualified for full-text review. Upon joint review, 12 studies were excluded following clarification of exclusion criteria by additional reviewers. A total of 24 studies were finally included in our review, accounting for 144 patients (Figure 1).^6,11–33 Studies were published between 1943 and 2015 in plastic surgery, surgery, ophthalmology, and oral-maxillofacial surgery journals—these included 11 case reports, 10 case series, 1 cross-sectional study, 1 retrospective study, and 1 prospective study (Table 1).

Figure 1.

PRISMA Extension for Scoping Reviews (PRISMA-ScR) flowchart of selected studies for review.

Table 1.

Summary of the 24 Included Studies and Patient Demographics.

Author	Year	Journal	Journal Type	Study Type	Number of patients	Male (n)	Female (n)	Unreported sex (n)
Johnstone et al	1943	BritJOphth	Ophthalmology	Case report	1	1	0	-
Mann et al	1943	BritJOphth	Ophthalmology	Case report	1	1	0	-
Franceschetti et al	1949	ActaOphth	Ophthalmology	Case report	1	0	1	-
O’Connor et al	1950	PRS	Plastic Surgery	Case report	1	1	0	-
Snyder et al	1956	AmJSurg	Surgery	Case series	7	-	-	7
Pearlstone et al	1962	AmJOphth	Ophthalmology	Case report	1	0	1	-
Longacre et al	1965	BritJPlasticSurg	Plastic Surgery	Case series	2	2	0	-
Stenstrom et al	1966	PRS	Plastic Surgery	Case report	1	0	1	-
Marsh et al	1979	PRS	Plastic Surgery	Case report	1	0	1	-
Bachelor et al	1980	AnnPlastSurg	Plastic Surgery	Case series	2	1	1	-
Jackson et al	1981	PRS	Plastic Surgery	Case report	1	1	0	-
Raulo et al	1981	ScandJPRS	Plastic Surgery	Case series	3	1	2	-
van der Meulen et al	1984	PRS	Plastic Surgery	Case report	1	1	0	-
Marks et al	1989	PRS	Plastic Surgery	Case report	1	1	0	-
Posnick et al	1993	PRS	Plastic Surgery	Case series	8	-	-	8
Roddi et al	1995	JCranioSurg	Plastic Surgery	Case series	20	-	-	20
Kobus et al	2006	AnnPlastSurg	Plastic Surgery	Case series	24	-	-	24
Korn et al	2008	Ophth	Ophthalmology	Case report	1	0	1	-
Grover et al	2009	JPedOphthStrab	Ophthalmology	Case series	3	2	1	-
Chowchuen et al	2011	JMedAssocThai	Medicine	Case series	1	1	0	-
Fan et al	2012	JCranioSurg	Plastic Surgery	Retrospective	45	-	-	45
Plomp et al	2013	JPRAS	Plastic Surgery	Cross-sectional	11	-	-	11
Mitsukawa et al	2014	AnnPlastSurg	Plastic Surgery	Case series	4	1	3	-
Franchi et al	2015	BritJOMFSurg	OMFS	Prospective	3	1	2	-
TOTAL	24				144	15	14	115

BritJOphth= British Journal of Ophthalmology

ActaOphth= Acta Ophthalmologica

PRS= Plastic and Reconstructive Surgery Journal

AmJSurg= The American Journal of Surgery

AmJOphth= The American Journal of Ophthalmology

BritJPlasticSurg= British Journal of Plastic Surgery

AnnPlastSurg= Annals of Plastic Surgery

ScandJPRS= Scandinavian Journal of Plastic Surgery

JCranioSurg= Journal of Craniofacial Surgery

Ophth= Ophthalmology Journal

JPedOphthStrab= Journal of Pediatric Ophthalmology and Strabismus

JMedAssocThai= Journal of the Medical Association of Thailand

JPRAS= Journal of Plastic Reconstructive and Aesthetic Surgery

BritJOMFSurg= British Journal of Oral and Maxillofacial Surgery

Pooled Demographics

Overall, there were 15 male patients (10%), 14 female patients (10%), and 115 (80%) patients with unspecified sex. The mean age of first eyelid reconstruction was 13 years (range 1–36 years). Eighty-two (57%) patients received a total of 82 craniofacial surgeries prior to or concurrently with eyelid reconstruction. These included midface reconstruction using a calvarial bone graft (68%, n = 56), temporal osteomuscular flap (26%, n = 21), split rib graft (4%, n = 3), and malar implants (2%, n = 2) (Table 2).^{13,16,19,22,24,25,30,33} Craniofacial procedures were often performed in conjunction with eyelid procedures. Calvarial bone grafting to the malar area was performed with myocutaneous eyelid flap (55%, n = 45), canthopexy (10%, n = 8), or both (4%, n = 3).^24,30,33 Temporal osteomuscular flaps were performed with myocutaneous flap and canthopexy together (26%, n = 21).^22,25 Split-rib grafting was performed with myocutaneous flap (2%, n = 2) or primary closure (1%, n = 1).^13,16 Malar implants were performed with myocutaneous flap and canthal tendon reconstruction (2%, n = 2).¹⁹

Table 2.

Summary of Eyelid Procedures and Revision and Complications Rates.

Author	Craniofacial procedure (N)	Age at eyelid reconstruction Mean (years)	Eyelid reconstruction technique	Eyelid procedures reported in article N	Outcome	Complication (N)	Follow-up time (months)	Secondary eyelid procedures (N)	Revision eyelid procedures (N)	Total eyelid procedures per patient, revisions included N
Johnstone et al	-	14	Right: “triangle of tissue including fibrous band” excised Left: Pedicled upper eyelid flap for left eye	2	Right: “excess tension;” Left: “fairly satisfactory”	Excess tension (1)	-	-	Sliding cheek skin graft with fascia lata canthopexy (1)	3
Mann et al	-	6	Pedicled upper eyelid flap	1	“persistent lower lid retraction”	Lower eyelid retraction (1)	-	-	Cartilage graft (1)	2
Franceschetti et al	-	10	Pedicled upper eyelid flap	1	“slight change”	-	-	-	-	1
O’Connor et al	Split rib grafting to maxillary area (1)	9	Wheeler-halving procedure (for notching correction)	1	-	-	-	-	-	1
Snyder et al	-	-	Kuhnt-Szymanowski	7	“restor[ed] the lower eyelid into a more normal position”	-	-	-	-	1
Pearlstone et al	-	36	Right: Kuhnt-Szymanowski followed by lateral angle tarsorrhaphy Left: Kuhnt-Szymanowski	2	Left:“quite satisfactory,” but relaxed over time (revision provided result described as “satisfactory”); Right: “improved appearance”	Lid laxity (1)	-	-	Lateral tarsorrhaphy (1)	3
Longacre et al	Split rib grafting for malar hypoplasia (2)	-	Pedicled upper eyelid flap (according to Mann 1943)	2	-	-	-	-	-	1
Stenstrom et al	-	20	Fascial sling with double pedicled upper eyelid flap with silicone implant	2	“satisfactory elevation (of lower eyelid)”	-	-	Dermal-fat grafting (1)	-	2
Marsh et al	-	14	Lateral canthopexy (pennant/strip made of orbital periosteum, fixed with wire through drill hole)	1	-	-	-	-	-	1
Bachelor et al	Malar implants (2)	12.5	Y graft of palmaris longus for lateral canthal tendon reconstruction + pedicled upper eyelid flap (Kilner cited)	4	Patient 1: “lateral canthi have remained adequately elevated”; Patient 2: “marked improvement in the appearance of his eyelids”, “some residual drooping”	-	-	-	-	2
Jackson et al	-	-	Upper eyelid composite pedicled flap with tarsal plate and conjunctiva, lateral canthal ligament wired to orbit at 10 and 11 oclock (drill hole canthopexy)	2	“results are satisfactory”	Excess skin (1)	-	-	Skin excision (1)	2
Raulo et al	-	13	Z-plasty (1), full thickness skin graft (1), single-pedicled upper eyelid myocutaneous flap (1)	3	-	-	-	-	-	1
van der Meulen et	Temporal osteoperiosteal bone flap for malar hypoplasia (1)	2.5	Palpebrotemporal flap with canthopexy (unspecified fixation or material used)	2	“satisfactory”	-	-	-	-	2
Marks et al	-	3	Conchal cartilage graft for posterior lamellar reconstruction and pedicled upper eyelid flap	1	-	-	48	-	-	2
Posnick et al	Calvarial bone grafting for malar deficiency (8)	10.5	Lateral canthopexy (at time of calvarial grafting) (drill hole, suture (unspecified type))	8	-	-	35	-	-	1
Roddi et al	Temporal bone flap for malar defect, as in van der Meulen (20)	18.8	Pedicled upper eyelid flap with lateral external canthopexy (no description of fixation or suture)	40	-	-	-	-	-	2
Kobus et al	-	-	Upper eyelid flap, lateral canthus sutured to orbital periosteum (no suture description)	48	“satisfactory or normal positioning of the palpebral fissure was obtained in all patients;” “persistent ectropion” (2 patients)	Ectropion (2)	-	Dermal-fat grafting (16)	-	2
Korn et al	-	-	Lower eyelid shortening, canthopexy (tarsal strip to periosteum, 5–0 polyglactin suture)	2	“improvement in lower eyelid retraction”	-	12	Dermal-fat grafting (1)	-	2
Grover et al	-	17.3	Primary closure (pentagonal cleft) with canthopexy (to periosteum, no description of suture)	6	“satisfactory cosmetic and functional results”	-	56.4	-	-	2
Chowchuen et al	-	1	Z-plasty	1	-	-	-	-	-	1
Fan et al	Calvarial bone grafting for malar reconstruction (45)	11.1	Upper to lower eyelid switch flap at time of malar reconstruction	45	-	-	66	-	-	1
Plomp et al	-	-	Lateral canthopexy (11, fixation and suture not described) with lateral pedicled myocutaneous transposition flaps (6)	17	4/6 patients that underwent flaps desired further treatment; 5/11 patients that underwent canthopexy desired further treatment	-	-	-	-	2
Mitsukawa et al	-	13.5	Single-pedicled flap transposition from the upper to the lower eyelid with periosteal pennant lateral canthopexy anchored to orbit (Mitek anchors)	8	“remarkable improvement”	-	-	-	-	2
Franchi et al	Calvarial bone grafting for malar reconstruction (3)	15.7	Autologous fat grafting followed (yrs later) by malar lift with canthopexy (3 patients, drill hole if possible, periosteal if not enough bone, fixed at superolateral orbit and junction of inferior and lateral orbit with 3–0 or 4–0 polypropylene) and pedicled upper eyelid flap (3 patients)	6	Scleral show: 2-->0, 3-->1, 2-->0; Fissure slant: 1-->0, 1-->0, 1-->0; Canthal dystopia: 1-->0, 2-->0 (Right) and 2-->1 (Left), 1-->0	-	36	-	-	2
TOTAL	82	-	-	212	-	6	-	18	4	-
Mean/Median		13	-		-	-	42	-	-	2

Surgical Eyelid Reconstruction

Among the 144 patients, a total of 212 eyelid procedures were reported and included in this review. Patients underwent between 1 and 3 eyelid procedures (median 2). Pathologies included pseudocoloboma (54%, n = 115), lateral canthal dystopia (38%, n = 81), and colobomas (8%, n = 16) (Table 2). Among the 6 studies that reported post-surgical follow-up, average follow-up time was 42 months (42 ± 18.99, range 12–66 months).^{23,24,27,28,30,33}

Coloboma Repair

Eight percent (n = 16) of patients underwent repair for true colobomas. Procedures included Kuhnt-Szymanowski (50%, n = 8), non-specific wedge resection (31%, n = 5), Z-plasty (13%, n = 2), and Wheeler-halving (6%, n = 1) (Table 3).^{11,13–15,21,27–29} The Kuhnt-Szymanowski technique involves primary wedge resection of the posterior lamellar closure with subciliary advancement flap of the lower eyelid to recreate the anterior lamella.³⁴ The Wheeler-halving procedure includes a wedge resection of the anterior and posterior lamella and closure with a sliding anterior lamellar skin flap overlying the posterior lamellar incision line.³⁵ Subjective esthetic outcomes were reported for 13/16 patients, noted as “improvement” (62%, n = 8/13), “satisfactory” (31%, n = 4/13), and “poor” (8%, n = 1/13).^11,15 Success rate, including outcomes deemed an “improvement” or “satisfactory,” was 92% (12/13) among all coloboma repair techniques. Two cases required revision. One patient experienced excess eyelid tension after non-specific wedge resection, requiring a sliding cheek skin flap with fascia lata canthopexy.¹¹ One patient required a lateral tarsorrhaphy 1 month after Kuhnt-Szymanowski procedure due to recurrent eyelid laxity.¹⁵ Dermal fat grafting was performed as a secondary surgery following non-specific wedge resection to improve midface contour (6%, n = 1).²⁷ No other postoperative complications were reported.

Table 3.

Summary of 212 Procedures Performed Categorized by Eyelid Defects.

Eyelid Defect	Procedure	Articles	Number of procedures N (% cohort)	Number of procedures N (% total)
Coloboma			16 (100%)	16 (8%)
	Kuhnt-Szymanowski procedure	Snyder 1956, Pearlstone 1962	8 (50%)
	Non-specific wedge resection	Johnstone 1943, Korn 2008, Grover 2009	5 (31%)
	Z-plasty	Raulo 1981, Chowchuen 2011	2 (13%)
	Wheeler-halving procedure	O’Connor 1950	1 (6%)
Pseudocoloboma			115 (100%)	115 (54%)
	Single-pedicled myocutaneous flap	Johnstone 1943, Mann 1943, Franceschetti 1949, Longacre 1965, Bachelor 1980, Raulo 1981, van der Meulen 1984, Roddi 1995, Kobus 2006, Fan 2012, Plomp 2013, Mitsukawa 2014, Franchi 2015	111 (96%)
	Single-pedicled myocutaneous flap & conchal cartilage graft	Marks 1989	1 (1%)
	Double-pedicled myocutaneous flap & silicone implant	Stenstrom 1966	1 (1%)
	Single-pedicled composite flap	Jackson 1981	1 (1%)
	Full thickness skin graft	Raulo 1981	1 (1%)
Lateral Canthal Dystopia			81 (100%)	81 (38%)
	Lateral canthopexy		77 (95%)
	Periosteum-fixed lateral canthopexy	Kobus 2006, Korn 2008, Grover 2009	28 (35%)
	Drill hole-fixed lateral canthopexy	Marsh 1979, Jackson 1981, Posnick 1993	10 (12%)
	Mitek anchor-fixed lateral canthopexy	Mitsukawa 2014	4 (5%)
	Unspecified-method lateral canthopexy	van der Meulen 1984, Roddi 1995, Plomp 2013, Franchi 2015	35 (43%)
	Lateral canthal reconstruction with palmaris longus tendon	Bachelor 1980	2 (2.5%)
	Fascial sling	Stenstrom 1966	1 (1%)
	Permanent lateral tarsorrhaphy	Pearlstone 1962	1 (1%)

Pseudocoloboma Repair

Fifty-four percent (n = 115) of patients underwent repair for pseudocoloboma. Techniques involved anterior lamellar reconstruction (97%, n = 112) or combined anterior and posterior lamellar reconstruction (3%, n = 3) (Table 3).^{6,11,12,16,17,19–23,25,26,30–33} Anterior lamellar reconstruction was predominantly performed with single-pedicled myocutaneous flaps from the upper eyelid (97%, n = 111), although one case of a full-thickness skin graft (1%, n = 1) was reported.^{6,11,12,16,19,21,22,25,26,30–33} Combined anterior and posterior lamellar reconstruction repairs included a double-pedicled myocutaneous upper eyelid flap with silicone implant (1%, n = 1), a single-pedicled composite upper eyelid flap (1%, n = 1), and a single-pedicled upper eyelid myocutaneous flap with conchal cartilage graft (1%, n = 1).^17,20,23 53% (n = 61) of pseudocoloboma procedures, including single-pedicled myocutaneous flap reconstruction (n = 60) or composite flap reconstruction (n = 1), were performed with lateral canthopexy.^{19,20,22,25,26,31–33} Cosmetic outcomes for pseudocoloboma procedures were described as an “improvement” (20%, 9/45) and “satisfactory” (60%, 27/45), amounting to an 80% success rate (Table 4). Single-pedicled myocutaneous flap outcomes were an “improvement” in 9 patients (21%, 9/43) and “satisfactory” in 25 patients (58%, 25/43), while the outcomes for both the composite upper eyelid flap (100%, 1/1) and double-pedicled myocutaneous upper eyelid flap (100%, 1/1) with silicone implant were “satisfactory.” Complications were reported in 4 patients (3%), with 2 patients (2%) requiring revision. Complications included persistent ectropion (2%, n = 2), excess lower eyelid skin (1%, n = 1), and lower lid retraction (1%, n = 1).^12,26 Persistent lower eyelid retraction following single-pedicled myocutaneous flap was managed with cartilage grafts (n = 1) and excess lower eyelid skin following the single-pedicled composite flap was managed with skin excision (n = 1).^12,20,26 Secondary surgeries were performed in 15% (n = 17) of cases—dermal fat grafting was implemented following single-pedicled myocutaneous flaps (94%, n = 16) and double-pedicled flap with silicone implant (6%, n = 1) to improve midface contour. No other complications were specified among articles.

Table 4.

Summary of Procedure Outcomes (When Reported), Revision Rates, and Secondary Surgery Rates.

Eyelid Defect	Success Rate* (%, N)	Revision Rate (%, N)	Secondary Surgery Rate (%, N)	Revision Indications (N)	Revision Procedure (N)	Secondary Surgery (N)
Coloboma	92 (12/13)	13% (2/16)	6% (1/16)	Lower lid tension (1), lower lid laxity (1)	Sliding cheek skin graft with fascia lata canthopexy (1), lateral tarsorrhaphy (1)	Dermal-fat grafting (1)
Pseudo coloboma	80 (36/45)	2% (2/115)	15% (17/115)	Excess lower lid skin (1), lower lid retraction (1)	Skin excision (1), cartilage graft (1)	Dermal-fat grafting (17)
Lateral Canthal Dystopia	79 (41/52)	0% (0/81)	22% (18/81)	-	-	Dermal-fat grafting (18)

^*Success rates defined by “improvement” or “satisfactory” outcomes.

Lateral Canthus Surgery

Thirty-eight percent (n = 81) of patients underwent repair for lateral canthal dystopia. Procedures included lateral canthopexy (95%, n = 77), lateral canthal reconstruction with palmaris longus tendon (2%, n = 2), fascial sling (1%, n = 1), and permanent lateral tarsorrhaphy (1%, n = 1) (Table 3). Methods of lateral canthopexy included unspecified technique (45%, n = 35), periosteum fixation (36%, n = 28), drill-hole fixation (13%, n = 10), and anchoring (5%, n = 4). A minority of periosteal pennant (n = 5) and tarsal strip (n = 1) canthopexies were also performed.^18,27,32 While most canthopexies did not specify material used (90%, n = 69), reported materials included bone-retained suture anchors (n = 4), polypropylene suture (n = 3), and polygalactin suture (n = 1).^27,32,33

Cosmetic outcomes for canthal dystopia repair were reported in 52 patients (64%) as an “improvement” (21%, 11/52) and “satisfactory” (58%, 30/52). Success rate was 79% among lateral canthal repair techniques (41/52). Specifically, outcomes for the lateral canthopexy subset were reported to be an “improvement” in 8 patients (17%, 8/48) and “satisfactory” in 29 patients (60%, 29/48) (Table 4). Canthal reconstruction with palmaris longus tendon showed improvement in elevation in both patients although one patient experienced “some residual drooping.” Fascial sling and permanent lateral tarsorrhaphy each resulted in improvement in all cases. Subjective esthetic outcomes were not reported in the remaining 30 patients (37%). Dermal fat grafting was performed after 22% (18/81) of lateral canthus procedures to smooth the contour of the lower eyelid and orbit. There were no reported complications.

Discussion

In patients with TCS, hypoplasia of facial tissue is the result of dysfunctional embryological development. Defects in neural crest cell function prevent proper fusion of the first and second branchial arches.³ The eyelid malformations associated with TCS are not found in isolation; they are multifactorial. Tessier facial clefts 6,7,8 associated with TCS result in hypoplasia or complete loss of the zygoma, malar area, and lateral orbital rim.³⁶ Further, hypoplasia of soft tissue and bony support of the cheek results in poor foundation for eyelid and canthal support. This is compounded by truly missing eyelid tissue in a coloboma or pseudocoloboma.

While the periorbital anomalies in TCS are quite visible and play a very important role in the correction of facial stigmata of TCS, there is limited literature on their correction. For example, a Pubmed search for “Treacher Collins syndrome eyelid” results in nearly 3.5 times fewer articles than “Treacher Collins syndrome mandible” and half as many articles as “Treacher Collins syndrome hearing.” It was our goal in performing this review to characterize and collate the available literature on eyelid procedures in TCS to guide subsequent reporting of research.

The available literature on eyelid reconstruction in TCS has significant limitations. Reports date back to the 1940s, but are limited in number, with an average of just 3 articles per decade (Table 1). The body of literature primarily consists of case reports and case series, with limited descriptions of both surgical technique and outcomes. Detailed surgical methodology was largely absent among included articles, with only a couple of articles providing pictorial representations of technique. Outcomes were universally subjective, with outcomes typically characterized as an “improvement” or “satisfactory” based on self-reported results. Some of these limitations are likely related to the rarity of TCS itself—larger series are difficult to compile without cross-institutional collaboration. Additionally, because the periorbital surgery in TCS is often performed by multiple surgeons, there may be barriers to collaborative publication. For example, a craniofacial surgeon may perform malar bone grafting, and a separate surgeon may perform the eyelid procedures, but the combination of both of these are required for an optimal result. Also, given that these procedures may be carried out throughout childhood and adulthood, there are challenges with patient follow-up and surgeon or patient re-location that may hamper the ability to provide a true longitudinal picture of the treatment of TCS-related periorbital deformity.

Additionally, the available literature suggests the extreme difficulty of eyelid surgery in TCS. While “satisfactory” or “improvement” certainly do not represent surgical ideals, these are the typical results reported in the literature. The challenge of eyelid reconstruction in TCS is multifactorial. Firstly, the ideal foundation of any eyelid reconstruction is appropriate malar support.³⁷ Malar support is almost universally limited in TCS, and often there is true zygomatic aplasia. Bone grafting and autologous reconstruction are subject to remodeling and resorption. Even in the most ideal zygomatic reconstruction, there is the limitation of significant scarring related to surgical dissection which does not result in optimal malar support for an eyelid reconstruction. Tissue loss continues into the eyelid and lateral canthus in many cases as well. This results in the net effect of attempting to build an eyelid with limited materials for donor tissue over a suboptimal foundation—effectively, a recipe for poor outcomes.

Lower Eyelid and Lateral Canthus

The totality of the literature found in our review involved the lower eyelid. It can be surmised that the majority of patients with TCS have pseudocoloboma as opposed to a true coloboma, given the number of corrections reported in the literature. In our review, across 212 eyelid procedures, surgical correction of pseudocoloboma was most commonly performed (54%), followed by correction of canthal dystopia (38%), and coloboma (8%). Revision rate was highest among coloboma procedures (13%), followed by pseudocoloboma surgeries (2%). No revisions were reported for lateral canthal dystopia surgeries (Table 4). However, because there are many factors that play a role in the decision to perform revision surgery, certainly this does not mean that optimal results were obtained in all cases that were not revised. Post-operative complications were poorly reported across the series.

Upper Eyelid

No deliberate approaches to ptosis management were noted in this literature review, despite the presence of ptosis in ~25% of patients with TCS.⁸ While not directly addressed, any method that harvests tissue from the upper eyelid, such as pedicled myocutaneous or composite flaps, may result in improvement of dermatochalasis. Few studies have reported on the levator function in TCS patients—thus ptosis-specific procedures such as frontalis suspension, external levator advancement, levator resection, Muller’s muscle conjunctival resection, or Fasanella-Servat, should be guided by the patient’s upper eyelid function.^38–40 Typically, patients with TCS have the ability to use their frontalis muscle to raise their eyelids—thus, in cases of poor levator function, a frontalis advancement, use of silicone rods, or fascia lata can all be considered. The correct procedure for ptosis will ultimately depend on the patients’ underlying levator function.

Malar Reconstruction

While characterizing zygomatic reconstruction was outside the goals of this literature review, malar support is an important component to lower lid reconstructive outcomes. Malar support alone, including malar fat grafting or counterclockwise craniofacial distraction osteogenesis with zygomatic bone grafting, can improve eyelid position; though this may not be sufficient with large eyelid defects.^41,42 Zygomatic reconstruction has been described using many methods, including bone grafts from the rib or cranium, fat grafting, and alloplastic implants. From a staging standpoint, malar reconstruction should likely be performed prior to completing eyelid reconstruction. (Figures 2–4) However, intermediate eyelid procedures for corneal protection may be indicated, such as tarsorrhaphy. It is important that any intermediate procedures performed do not compromise the planned final eyelid reconstructive procedure.

Figure 2.

Eighteen-year-old patient with Treacher Collins Syndrome, status post 2 mandibular distractions but still tracheostomy dependent.

Figure 4.

Frontal view of zygomatic reconstruction with full-thickness cranial bone grafts on three-dimensional skull rendered using iCAT scan on 3D Slicer (Version 5.2.1).

Current Thoughts on Management

Colobomas and pseudocolobomas are related to the Tessier 6 cleft. True colobomas involve a full-thickness loss of tissue and are typically treated with some variation of a wedge excision with primary closure. Pseudocolobomas lack definitive notching and are more common than colobomas in TCS; they are found in ~50% of all cases, and generally affect >25% of the lower eyelid length.⁸ Shortening of the anterior lamella and posterior lamella may contribute to ectropion, eyelid retraction with increased scleral show, or lateral canthal dystopia seen in TCS. Surgical management involves reconstruction of the absent tissues with consideration of both the anterior and posterior lamella of the eyelid.

Depending on the size of the pseudocoloboma, a primary wedge resection and closure can be considered if involvement is <25% of the eyelid. A lateral canthotomy and cantholysis can be utilized to allow for additional mobility of the remaining lid to achieve primary closure. Larger pseudocolobomas between 25% to 50% of the eyelid may require a semi-circular Tenzel flap for anterior lamellar reconstruction. Although the most common pseudocoloboma procedure reported in this review was the single-pedicled myocutaneous flap from the upper eyelid, this would typically be a secondary choice in our practice (Figure 5).

Figure 5.

On the left—lateral tarsal strip canthoplasty for lid resuspension, In the middle—dermis fat graft to lower lid, On the right—intraoperative, showing new eyelid position.

Pseudocolobomas may also involve defects of the posterior lamella, including hypoplastic tarsus. In this review, hypoplastic tarsal plates were only addressed in 2 patients, utilizing a single-pedicled composite flap from the upper eyelid, combining the myocutaneous flap with the tarsal plate and conjunctiva, to reconstruct the anterior, and posterior lamellae simultaneously or conchal cartilage grafts to support the lower eyelid and improve lower lid retraction.⁴³ Conchal cartilage may not always be available in TCS patients given typical bilateral microtia. In these patients, other options are still available—palatal mucosal grafts and acellular dermal matrix have been reported to be effective for posterior lamellar reconstruction in a variety of conditions.^44–52

Canthal dystopia is found in nearly 100% of TCS cases and 64% of patients with TCS may present with an absent lateral canthal tendon, preventing canthopexy through fixation of the tendon.^8,43 Three methods identified may still be employed in this scenario, including tarsal strip canthopexy, tendon reconstruction with palmaris longus, and periosteal pennant canthopexy.^18,19,27,32 However, these methods are not available in all patients, as the lateral tarsal plate is often hypoplastic in TCS and palmaris longus is absent in 16% of individuals.^43,53 The ability to use drill holes or a periosteal pennant may depend on the amount of zygoma present.³³ Bone graft reconstruction of the lateral orbital rim, typically combined with the malar region, may be needed prior to a drill-hole canthopexy or lateral tarsal strip.(Figures 3,5,6)

Figure 3.

Patient 22 weeks after counterclockwise craniofacial rotation osteogenesis followed by full thickness cranial bone graft reconstruction of the zygoma. Tarsorrhaphy performed for corneal protection on the right.

Figure 6.

Seven months postoperative from eyelid procedure showing improved but not completely resolved eyelid retraction from pseudocoloboma bilaterally. The patient is planned for decannulation and additional facial fat grafting, as well as anterior lamellar reconstruction on the right.

In the authors’ experience, a lateral tarsal strip may be advantageous in TCS patients to address eyelid laxity and provide more robust periosteal attachment to the inner aspect of the rim (Figure 5). Compared to a suture canthopexy alone, this helps address the lower eyelid position, improving lower eyelid retraction, and resetting the lateral canthal angle. However, care should be taken to avoid creation of too large of a tarsal strip, especially in the cases of colobomas or pseudocolobomas in order to avoid buckling of the lower eyelid in relation to the globe. Polyester coated with polytetrafluoroethylene sutures may result in granulomas; thus, the authors recommend the use of a 4–0 polyglactin, PDS-polydioxanone, or polypropylene suture on a P2 needle that may be less inflammatory and easier to engage the inner aspect of the periosteum at the lateral rim, if present.⁵⁴

Based on the authors’ experience and results of the above literature review, a general approach to eyelid pathology in TCS would be as follows. To begin, the structural deficits surrounding the eyelids due to midface hypoplasia are addressed, providing a bony foundation for the soft tissue surgeries to follow. Following adequate recovery (~ 6 months), the soft tissue deficits of the lower eyelid may be addressed. After coloboma/pseudocoloboma repair and recovery (~ 3 months), lateral canthal surgery would follow. Finally, if upper eyelid ptosis remains prominent following other repairs (~ 3 months), ptosis surgery would then be performed.

On occasion, coloboma/pseudocoloboma repair may take precedence in the approach to surgical management—with signs of corneal decompensation, lower eyelid repairs would be performed first in the best interest of the patient’s vision. This may be accomplished by immediate temporary tarsorrhaphy if coloboma repair cannot occur immediately. Additionally, coloboma/pseudocoloboma repair may be performed concomitantly with lateral canthal repair—with larger lower eyelid defects requiring canthotomy or more laterally positioned defects, lateral canthal repair at the time of eyelid repair would be indicated. This would allow for a single stage repair. If a lateral canthal revision were necessary, the authors would recommend waiting 3 months. While this treatment algorithm may provide a useful framework for planning the surgical management of TCS, the diverse presentations of TCS and interplay of the detailed anatomy of the face require each management plan to be adjusted according to the specifics of each patient.

Significant limitations are apparent across the existing body of literature on eyelid reconstruction in patients with TCS, namely, varied modes of reporting clinical outcomes, limited reports of patient satisfaction, limited reports on esthetic outcomes, and a lack of objective results. Across the included studies, surgical complications and follow-up were minimally reported. Subjective author assessments such as “satisfactory” results are nonspecific. Many of these issues are related to the age of the articles evaluated as most predate validated outcome measurements. However, with validated questionnaires easily available currently such as FACE-Q, this would be an important component of any study of eyelid reconstruction in TCS moving forward. Objective evaluation of results were rare, with minimal reports on the marginal reflex distance, scleral show, and lateral canthal angles. Thus, further quantitative surgical outcomes studies are needed to assess which techniques may be more successful and provide the ability to compare across techniques.

Conclusion

Eyelid reconstruction in patients with TCS has been successfully performed using a variety of methods, but there is a relative paucity of literature on this aspect of care of TCS compared to other aspects. The most commonly addressed defects include pseudocolobomas, colobomas, and lateral canthal dystopia. Ptosis surgery is often overlooked in these patients. Given the diversity of presentation in TCS, surgical management must ultimately be tailored to the defects present and their extent in each individual patient.