Table 1.
Summary of reported female XLRS cases in the literature (BCVA, best correct visual acuity; CF, count fingers; LP, light perception).
| Authors | Age | Zygosity | RS1 Variant | BCVA | Macular Findings | Retinal Findings |
|---|---|---|---|---|---|---|
| Kirkby et al. 2023 | 2 years old | Heterozygous | c.266delA, p.(Tyr89LeufsTer37) | Unavailable | Thickened retinae with absence laminal structure. Mild foveal hypoplasia. Minute intraretinal hyporeflective cystic lesions; no foveal schisis. | Inferior peripheral retinoschisis (left). Inferotemporal RPE atrophy (right, with associated concentric rings of pigment enclosing a schitic-appearing area and yellow material). |
| Saldana et al. [7] | 5 years old | Heterozygous | c.305G>A; p.(Arg102Gln) | 20/30 and 20/40 | RPE changes; no foveal schisis. | Bilateral inferotemporal peripheral retinoschisis. |
| Gieser et al. 1961 [10] | 13 years old | Obligate carrier | Unavailable | 20/25 (Central scotomas) |
Foveal schisis with “pigment mottling and few verrucae in sharply punched-out macular area.” | |
| Sabates 1966 [11] | 41 years old | Obligate carrier | Unavailable | Unavailable | Temporal (right) and inferotemporal (left) retinoschisis. Two areas midperipheral “pigment clumping.” |
|
| Wu et al. 1985 [12] | 56 years old | Obligate carrier | Unavailable | Unavailable | Radial wrinkling around fovea, internal limiting membrane; no foveal schisis | |
| Kaplan et at 1991 [13] | Unavailable | 5 x Obligate carriers | Unavailable | Unavailable | None had macular findings | Peripheral lesions (“mild greyish-white spots or dendrite-like areas,” “aberrant zones of underdeveloped capillaries,” inferotemporal retinoschisis). Two had previous childhood cryocoagulation. |
| Ali, S et al. 2013 [14] | 54 years old | Obligate carrier | Unavailable | Unavailable | Inferior retinoschisis, outer retinal hole with lattice degeneration in one eye. | |
| Ali, A et al. 2003 [15] | Proband (unavailable) | Presumed homozygous or compound heterozygous | Unavailable | LP (Bilateral nystagmus) |
Bilateral total retinal detachment. | |
| 10 years old | Presumed homozygous or compound heterozygous | Unavailable | 6/60 and 3/60 | Foveal schisis. | Bilateral longstanding inferior retinoschisis extending to inferior arcades. | |
| 5 years old | Presumed homozygous or compound heterozygous | Unavailable | 6/36 and 6/60 | Foveal schisis with pigmentary changes. | Bilateral inferior scars and retinoschisis with pigmentary changes. | |
| 1 year old | Presumed homozygous or compound heterozygous | Unavailable | Unavailable | “Macular involvement” of retinoschisis. | Bilateral retinal detachment, and retinoschisis. Secondary changes in areas of detachment, markedly atrophic retinae. |
|
| Rodriguez, F.J. et al., 2005 [16] | 10 years old | Homozygous | c.639delG | 20/20 and 20/30 | Foveal schisis. | Mid-retinal cyst inferotemporal quadrant. Pale optic discs. |
| 37 years old | Homozygous | c.639delG | 20/100 and 20/400 | “Modified” foveal schisis | Previous cryotherapy inferotemporally. Pale optic discs. | |
| 37 years old | Homozygous | c.639delG | 20/60 and 20/400 | “Modified” foveal schisis | Peripheral retinoschisis. Pale optic discs. |
|
| Saleheen, D. et al. 2008 [17] | 1 year old | Homozygous | c.579dupC | Unavailable | “Macular involvement” of retinoschisis. | Bilateral retinal detachment. |
| 3 years old | Homozygous | c.579dupC | LP (Bilateral nystagmus) |
Bilateral complete retinal detachment. | ||
| 10 years old | Homozygous | c.579dupC | 6/60 and 3/60 | Foveal schisis radiating to inferior arcades. | ||
| 5 years old | Homozygous | c.579dupC | 6/36 and 6/60 | Foveal schisis. | Bilateral inferior scars with pigmentary changes accompanying peripheral retinoschisis. | |
| Gliem, M. et al. 2014 [18] | 59 years old | Homozygous | c.293C>A, p.(Ala98Glu) | Unavailable | Atrophic macula. | Hyperpigmentary changes and chorioretinal scarring towards periphery. Prior cryotherapy. |
| Staffieri, S.E. et al., 2015 [19] | 9 years old | Homozygous | c.304C>T (rs61752067) | Sensory nystagmus | ||
| 11 years old | Homozygous | c.304C>T (rs61752067) | Sensory nystagmus | Foveal schisis. | ||
| Khan, A.O. et al., 2019 [20] | Unavailable | Homozygous | c.304C>T p.(Arg102Trp) | “Poor since childhood” | Foveal schisis | Peripheral retinoschisis. |
| Onen, M. et al. 2020 [21] | 4 years old | Presumed homozygous or compound heterozygous | Not specified | 20/50 | Foveal schisis. | |
| 15 years old | Presumed homozygous or compound heterozygous | Not specified | 20/40 | Foveal schisis. | ||
| 17 years old | Presumed homozygous or compound heterozygous | Not specified | 20/100 | Atrophic macula with RPE changes. | ||
| Altun, A. et al. 2020 [22] | 18 years old | Presumed homozygous or compound heterozygous | Not specified | CF | Bilateral macula holes. | |
| Sato, M. et al. 2003 [23] | 29 years old | Turners syndrome | c.(522+1G>A) | 60/200 | Foveal schisis (diagnosed at 10 years old). |