Microspherophakia: A clinical approach and mini review with a case report

ABSTRACT

Microspherophakia refers to a spherophakic lens with a decreased equatorial diameter. Microspherophakia can be found in systemic or ocular conditions, such as Marfan’s syndrome, Weill–Marchesani syndrome, iridocorneal endothelial syndrome, and Axenfeld–Rieger syndrome. A 3-year-old girl was brought with complaints of eyes appearing larger, watering and inability to see bright light for 1 year. On examination, she had megalocornea; the cornea was clear with a shallow anterior chamber, and microspherophakic lens. Her intraocular pressure (IOP) was recorded as 43 and 32 mmHg in the right and left eyes, respectively. This article guides in classifying, categorizing, and managing a case with microspherophakia.

Introduction

Spherophakia is an uncommon birth malformation of the eye in which the crystalline lens develops into a spherical shape with an anteroposterior diameter more significant than average. Microspherophakia refers to a spherophakic lens with a decreased equatorial diameter.[1]

On full pupillary dilatation, the equator of the lens is manifested. Clinical findings of this anomaly include insufficient accommodation, myopia, subluxated or dislocated lens, glaucoma, and retinal detachment. More than 50% of the eyes are impaired because of glaucoma, the most common vision-threatening complication. Spherical and anteriorly located lens causes shallow anterior chamber leading to angle-closure glaucoma in these eyes. Anteriorly subluxated and dislocated spherophakic lens causes pupillary block resulting in acute angle-closure.[2] Microspherophakia can be found in systemic or ocular conditions, such as Marfan’s syndrome, Weill–Marchesani syndrome, iridocorneal endothelial syndrome, and Axenfeld–Rieger syndrome. Non-syndromic cases of microspherophakia are rare. Isolated microspherophakia was reported in various ethnicities, including the Asian and North African populations.[3] We report a case of isolated bilateral microspherophakia and secondary angle-closure glaucoma in a toddler. Through this report, we would like to highlight the knowledge of basics of spherophakia for the primary care physician and its association with numerous systemic conditions that need to be evaluated clinically at the earliest.

Case Report

A 3-year-old girl presented with complaints of eyes appearing large [Figure 1a, b]. The parents also complained that the child had watering with inability to see in bright light since the past 1 year. The child was born at full term by normal vaginal delivery with no history of acute illness or drug use by the mother. She was a product of non-consanguineous marriage. No abnormality was detected on the ocular examination of the patient’s two older siblings. The patient was subjected to examination under anesthesia. On anterior segment examination, the cornea was clear, corneal diameter (vertical) was 13 mm in both right and left eyes, and horizontal corneal diameter was 13 mm and 13.5 mm in the right and left eye, respectively, suggestive of megalocornea; shallow anterior chamber and microspherophakic lens. Her axial length measured with A-mode ultrasonography was 23.52 mm in the right eye and 22.97 mm in the left eye. Her IOP was recorded using a Tono-pen AVIA applanation tonometer (Reichert Inc. NY, USA), which was found to be 43 and 32 mmHg in right and left eye, respectively. Cycloplegic refractive error (performed with Homatropine 2% eye drops from the aphakic region) was + 13.00 DS/–3.00 @ 180º in the right eye and + 10.00 DS/–1.00 @ 90º in the left eye. Fundus examination showed no abnormal findings. She was started on eye drop brinzolamide 1% and eye drop timolol 0.25%. After IOP control, the child was planned for lensectomy +/- intraocular lens implantation. Our patient did not manifest traits of any syndrome and was a presumed case of isolated microspherophakia with megalocornea and angle-closure glaucoma. Her complete blood count, liver function test, and kidney function tests were normal. MRI brain with orbit showed normal brain study with enlarged bilateral orbit with a subluxated lens in the left eye. ECG and echocardiography revealed a normal study. Ultrasound (KUB (Kidney, ureter and bladder) and pelvis) was suggestive of cystitis. X-ray bilateral hand with wrists, whole spine, and skull was normal.

Figure 1.

(a) Clinical photograph of the right eye with microspherophakia and subluxation of lens (b) Clinical photograph of the left eye with microspherophakia and anterior subluxation of lens

Discussion

Microspherophakia is a clinical finding and etiologically heterogeneous in origin. A case with microspherophakia could be divided into syndromic form with multisystem involvement [Table 1], with solitary ophthalmic anomalies [Table 2], and isolated microspherophakia. All articles and entries on PubMed and OMIM with the Mesh term “microspherophakia” were used for enlisting clinical conditions in these tables. Our patient was an isolated case of microspherophakia, as she did not manifest traits of any syndrome and other ophthalmic findings. Microspherophakia is generally described in systemic disorders such as Weill – Marchesani syndrome, homocysteinemia, Marfan’s syndrome, Alport’s syndrome, and Klinefelter’s syndrome.[4] Sphericity of the fetal lens persists into adulthood because of retarded development of the ciliary body and zonules.[5] Recurring, unrelieved pupillary block, or a developmental abnormality of the angle leads to peripheral anterior synechiae development, and permanent trabecular impairment results in chronically raised IOP.[6] According to Yang et al.,[7] phacoemulsification with intraocular lens implantation and lensectomy with a scleral fixated intraocular lens is effective in reducing IOP and improving visual acuity in spherophakic patients with glaucoma. Bhattacharjee et al.[8] described neodymium-doped yttrium aluminium garnet (Nd:YAG) –Laser Peripheral Iridotomy (PI) followed by precise lens extraction with intraocular lens implantation in their case of microspherophakia with pupillary block glaucoma as a reasonable treatment option. Satana et al.[9] reported pars plana lensectomy with vitrectomy and goniotomy in their case with reasonable IOP control. In a study by Rao et al.,[10] lensectomy alone successfully controlled IOP in half of the eyes with spherophakia and secondary glaucoma; 40% of eyes required medication and 7.7% underwent glaucoma surgery. A study conducted by Senthil et al. concluded that primary trabeculectomy had a good outcome with a postoperative shallow anterior chamber in five out of 29 eyes.[2] Tables 1 and 2 help in the initial classification and categorization of a case of microspherophakia. Therefore, microspherophakia should be a differential in a patient with the above findings. Early surgical intervention may be considered to relieve IOP and prevent further damage. It is imperative for family physicians to have a basic knowledge of the ocular and systemic manifestations of various underlying genetic disorders. A thorough preliminary assessment by family physicians of ocular anomalies such as microspherophakia in children could go a long way in deciding appropriate treatment strategies on referral to higher specialty centers.

Table 1.

Systemic and ocular associations of microspherophakia

Clinical conditions associated with microspherophakia	Other ophthalmic findings seen in these conditions	Other systemic associations	Authors and year
Ichthyosis, congenital, autosomal recessive 9, ARCI9	Ectopia lentis	Ichthyosis (erythrodermic scales)	Radner FPW et al., 2013[11]
Alport’s syndrome	Anterior and posterior lenticonus, corneal dystrophies, microcornea, arcus, iris atrophy, cataracts, spontaneous lens rupture	Deafness & renal disease	Colville, 1997[14]
Homocystinuria	Anterior dislocation of lens, posterior dislocation of lens, raised intraocular pressure	Thromboembolism, & developmental delay	Magdalene D et al., 2020[15] Muralidhar R et al., 2015[16]
Klinefelter’s syndrome	Microphthalmia and cataracts	Gynecomastia, infertility & tall stature	Juhn AT, 2012[17]
Axenfield – Rieger syndrome	Exotropia, posterior embryotoxon, macular corneal opacity, Shallow anterior chamber in midperiphery, iris atrophy, ectropion uveae, iridocorneal	short stature, high arched palate, deviated nasal septum & dental dysplasia	Rastogi et al., 2010[18]
Chondrodysplasia punctata	Cataracts and optic atrophy	Skeletal dysplasia	Eustis HS et al., 1990[19]
Cri du chat syndrome	Epicanthal fold, slight downward slanting eyes, bilateral cataract	A high-pitched cat-like cry & growth failure	Kitsiou-Tzeli S et al., 1983[20]
Microcrospherophakia with Hernia	Iridodonesis, subluxated lens	Hernia	Johnson VP et al., 1971[21]
Microspherophakia - metaphyseal dysplasia	Deep anterior chamber, high myopia, right lens coloboma with nasal subluxation of lens, left superotemporal subluxation of lens, bilateral cataract.	metaphyseal deformation	Verloes A et al., 1990[22]
Weill – Marchesani syndrome 1, (WMS1-4)	Myopia, Ectopia lentis, Glaucoma. Inferior subluxation of lens, high myopia, glaucoma, corectopia.	Short stature, brachydactyly & joint contractures	Tsilou E et al., 2013[23] Verloes A et al., 1992[24]
Marfan’s syndrome	Ectopic lens, Glaucoma. Blue sclerae, megalocorneas, hypoplastic irides with complete translucency, miosis, lens dislocation and severe myopia.	Disproportionate tall stature, chest & hindfoot deformity, Aortic root enlargement	Senthil S et al., 2014[2] Meire FM et al., 1991[25]

Table 2.

Microspherophakia associated with only ocular anomaly/ies

Ocular condition	Authors and year
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MSPKA	Khan AO et al., 2011[12] Bjerrum K et al., 1991[13] Desir J et al., 2010[26]
Aniridia	Singh B et al., 2014[27]
Iridocorneal endothelial syndrome	Islam F et al., 2011[28]
Megalocornea	Desir J et al., 2010[26]
Optic disc colobomata	Fan DSP et al., 2003[29]

Key points

1. Microspherophakia is a rare congenital malformation with lens of a small equatorial diameter causing lens dislocation, shallow anterior chamber, and angle-closure glaucoma.

2. The condition is either isolated or it may be associated with systemic diseases such as Marfan’s syndrome, Weil–Marchesani syndrome, hyperlysinemia, and congenital rubella.

3. Early diagnosis helps in timely rehabilitation of the child with prevention of amblyopia.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.