Table 1.
Clinical, SD-OCT, visual field and genotype findings in six affected males with XLRS.
| Subject Number | Age (years) | Snellen BCVA (ETDRS letter score) | Macular appearance | Peripheral retinoschisis | Location of cystoid spaces within the macula by SD-OCT | Location of cystoid spaces within the extramacular area by SD-OCT | 30-2 HVF | RS1 Genotype |
|---|---|---|---|---|---|---|---|---|
| Pt 1 (brother of Pt 2) | 9 | 20/80 − (54) OD, 20/63 (60) OS | Stellate spoke- like OU | Shallow inferotemporal schisis OU | OD: within INL in the central macula (larger subfoveally); ONL throughout macula OS: INL in the central macula (larger cysts subfoveally) |
OD: within ONL at the superotemporal arcade only OS: none |
OD: two paracentral pinpoint defects OS: no defects (Reliable OU) |
Asp118 del1gaC ins18GGTGTGC CTGGCTCTCCA hemizygous |
| Pt 2 (Brother of Pt 1) | 5 | 20/80− (54) OD, 20/63-2 (56) OS | Stellate spoke- like OU | No peripheral schisis OU | OD: within INL throughout the macula (larger subfoveally); within ONL in the superior macula to the level of the fovea; few cysts within GCL/NFL parafoveally OS: within INL and ONL in the central macula |
OD: within ONL superior to the macula and the ON, within INL superior to the ON, few within GCL/NFL near the inferotemporal arcade OS: No images due to poor cooperation |
Generalized depression OD>OS, decreased reliability with 25% false positive rate OU | Asp118 del1gaC ins18GGTGTGC CTGGCTCTCCA hemizygous |
| Pt 3 (uncle of Pt 1 and Pt 2) | 47 | 20/200−2 (33) OD, 20/80 (50) OS | OD: atrophy with lamellar macular hole OS: atrophy with early lamellar hole |
Shallow inferotemporal schisis OU | OD: within INL throughout the entire macula, large lamellar macular hole OS: within INL parafoveally, central retinal thinning with irregular foveal contour |
OD: within INL just inferior to the inferotemporal arcade OS: none |
OD: central defect extending from superior to inferior hemifield OS: smaller central defect (reliable OU) |
Asp118 del1gaC ins18GGTGTGC CTGGCTCTCCA hemizygous |
| Pt 4 | 13 | 20/40−2 (66) OD, 20/80−2 (53) OS | Stellate spoke- like OU | Shallow inferotemporal schisis OU | OD: within INL throughout the macula (larger subfoveally); within ONL throughout the macula (larger in the superior macula) OS: within INL throughout the macula (larger subfoveally); within ONL throughout the macula (larger cysts in the superior macula); few within GCL/NFL at the inferotemporal and superotemporal arcade and parafoveally |
OD: within ONL superior to the macula and superior and inferior to the ON; within GCL/NFL near the superotemporal arcade, supero-nasal to the ON, and at the infero-temporal arcade OS: within INL superior to the superotemporal arcade and nasal to the ON; within GCL/NFL superior to the supero-temporal arcade and the ON |
Central defect OU | Arg213Trp CGG>TGG hemizygous |
| Pt 5 | 9 | 20/50−3 (63) OD, 20/63+2 (62) OS | Stellate spoke- like OU | Peripheral schisis OU | OU: within INL in the central macula (larger subfoveally); few tiny spaces within GCL/NFL parafoveally OU | OU: none | Paracentral defects OU (high fixation losses) | Pro203Leu CCG>CTG hemizygous |
| Pt 6 | 49 | 20/80 (51) OD, 20/100 (39) OS | Honeycomb cystic OU | No peripheral schisis OU | OD: within INL in the central macula (larger subfoveally) OS: tiny INL spaces near the fovea |
OU: none | Central scotoma OU (high fixation losses) | Glu6Stop GAA>TAA hemizygous |
BCVA- Best-corrected Visual Acuity, ETDRS- Early Treatment Diabetic Retinopathy Study, OD- right eye, OS- left eye, OU- both eyes, GCL- ganglion cell layer, NFL- retinal nerve fiber layer, INL- inner nuclear layer, ONL- outer nuclear layer, ON-optic nerve, SD-OCT- spectral-domain optical coherence tomography, HVF- Humphrey Visual Field, RS1- retinoschisin gene, Pt- patient, XLRS- X-linked retinoschisis