Table 2.

Genes of Interest in the Differential Diagnosis of X-Linked Congenital Retinoschisis

GeneDisorderMOIClinical Features of Differential Diagnosis DisorderDistinguishing Features
CACNA1F
NYX 		X-linked congenital stationary night blindness XLElectronegative ERG may mimic XLRS.XLRS rarely presents w/complaint of "night blindness."
NR2E3 Goldmann-Favre vitreoretinal degeneration & enhanced S-cone syndrome (OMIM 268100)ARMay mimic XLRS. Onset in infancy. Severely impaired vision incl marked visual field loss & severe night blindness. Coarse intraretinal cysts may be seen w/peripheral retinoschisis; no vitreous veils are observed.ERG shows markedly ↓ a-waves & b-waves w/altered timing (vs simply the ↓ in the b-wave amplitude seen in XLRS).
OFD1
RP2
RPGR
(>80 genes) 1		 Nonsyndromic retinitis pigmentosa XL 1
(AD,
AR,
digenic)		RP: a group of inherited disorders involving congenital or progressive death of retinal photoreceptors (rods & cones) → visual loss. 2 Referring diagnosis in many persons w/XLRS (XLRP may cause confusion w/XLRS.)Unlike XLRS, RP may be assoc w/intraretinal pigment dispersion or clumping, narrowing of retinal vessels, & optic nerve gliotic pallor. ERG in RP (esp XLRP) has markedly ↓ a-wave & b-wave (vs selective b-wave amplitude ↓ in XLRS)
VCAN VCAN vitreoretinopathy
(Wagner syndrome & erosive vitreoretinopathy) (OMIM 143200)		AD"Optically empty vitreous" on slit-lamp exam & avascular vitreous strands & veils, mild or occasionally moderate-to-severe myopia, presenile cataract, night blindness of variable degree assoc w/progressive chorioretinal atrophy, retinal traction & retinal detachment at advanced stages of disease, & ↓ visual acuity. 1st signs usually appear in early adolescence.

AD = autosomal dominant; AR = autosomal recessive; ERG = electroretinogram; MOI = mode of inheritance; XL = X-linked; XLRP = X-linked retinitis pigmentosa; XLRS = X-linked congenital retinoschisis

1.

More than 80 genes are known to be associated with RP (see Nonsyndromic Retinitis Pigmentosa Overview). OFD1, RP2, and RPGR are associated with X-linked RP; 5% to 15% of all RP probands have X-linked RP.

2.

Noble et al [1978] reported a family with rod-cone dystrophy and associated foveal schisis. For this reason, foveal retinoschisis alone does not make the diagnosis of XLRS.

From: X-Linked Congenital Retinoschisis

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