Table 2.
Summary of the clinical data of 26 families with gene-associated retinal dystrophies.
| Family | Patient | Gender | Age years |
Age of onseta | Visual acuity OD OS |
Ophthalmoscopy | Optical coherence tomography | Full-Field ERG (ODS) | Diagnosis | Gene |
|---|---|---|---|---|---|---|---|---|---|---|
| F1 | IV.7 | M | 30 | Birth | LP LP |
Vessel attenuation RPE mottling and spicule deposits from the mid-retina to the periphery Macula seems preserved |
Extinct response | LCA | RPGRIP1 | |
| F2 | II.2 | M | 4 | Birth | LP LP | Normal fundus appearance | Extinct response | LCA | GUCY2D | |
| F3 | III.1 | F | 39 | Birth | LP LP | Vessel attenuation RPE mottling and spicule deposits from the mid-retina to the periphery | LCA | RPE65 | ||
| F4 | III.1 | F | 8 | Birth | 1/20 RE/LE | Normal fundus appearance | Normal | Extinct response | LCA | IQCB1 |
| III.2 | M | 1 | Birth | NM | Normal fundus appearance | |||||
| F5 | II.1 | F | 8 | Birth |
LP + RE LP—LE |
RE: preserved para-arteriolar RPE, Peripheral nummular pigment clumping and atrophy LE: Coats-like exudative Vasculopathy |
Extinct response | LCA | CRB1 | |
| F6 | II.1 | M | 48 | 10 | HM |
Cone-rod dystrophy with yellowich macular deposits Mid-peripheral nummular pigment clumping and atrophy |
Macular atrophy | CRD | CRB1 | |
| F7 | II.1 | M | 14 | 6 | 1/20 | Cone-rod dystrophy with yellowich macular deposits nummular pigment clumping and atrophy | Macular disorganization and cysts | CRD | CRB1 | |
| F8 | III.1 | F | 32 | 12 | LP LP |
Few bone spicule shaped deposits in the mid periphery along with atrophy of the periphery retina, Early macular atrophy |
RE: macular hole LE: macular atrophy |
Altered photopic and scotopic responses | CRD | CDHR1 |
| III.3 | F | 44 | 10 | LP LP |
Vessel attenuation RPE mottling and spicule deposits from the mid-retina to the periphery macular atrophy with spicule deposits |
Macular atrophy | ||||
| F9 | IV.4 | M | 30 | 10 | 1/10 1/20 |
Beaten-bronze aspect of the macula Peripheral RPE atrophy Mild optic atrophy, Narrowing of the Vessels |
Macular atrophy | Altered photopic and scotopic responses | CRD | C8ORF37 |
| IV.6 | F | 32 | 8 | HM HM | Macular atrophy | |||||
| IV.2 | M | 52 | Infancy | LP LP |
Gliosis of the posterior pole Diffuse retinal atrophy |
Macular atrophy with parafoveolar gliosis | ||||
| F10 | II.1 | F | 43 | 18 |
1/10 RE 2/10 LE |
Symmetrical cloverleaf maculopathy with patchy circular midperipheral RPE atrophy and nummular pigment deposits | Macular atrophy | Altered cone and rods ERG predominating on photopic responses | CRD | C2ORF71 |
| II.2 | M | 48 | 15 | 3/10 RE/LE | ||||||
| II.3 | M | 62 | 14 |
LP RE/LE |
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| F11 | II.2 | F | 43 | 9 | Finger count |
Diffuse macular, peripapillary and RPE atrophy extending beyond the vascular arcades Hyperplasia of the RPE |
Macular atrophy | CRD | ABCA4 | |
| F12 | II.1 | F | 58 | 10 | HM | Diffuse macular, peripapillary and peripheral RPE atrophy; | Macular atrophy | Altered ERG responses predominating on photopic waves | STGD | ABCA4 |
| F13 | II.2 | F | 14 | 6 | 1/10 RE/LE |
Bull’s eye maculopathy yellowish deposits |
Macular atrophy | STGD | ABCA4 | |
| F14 | III.3 | F | 18 | 6 | 1/10 RE/LE |
Bull’s eye maculopathy yellowish deposits |
Macular atrophy | STGD | ABCA4 | |
| F15 | II.1 | F | 19 | Before five | HM |
Bull’s eye maculopathy Peripheral RPE Atrophy and yellowish deposits |
Macular atrophy | Altered photopic responses with slightly altered scotopic responses | STGD | ABCA4 |
| II.2 | M | 14 |
Before Five |
Hand movement |
Bull’s eye maculopathy Peripheral RPE Atrophy and yellowish deposits |
Macular atrophy | Altered photopic responses with slightly altered scotopic responses | |||
| F16 | V.4 | M | 21 | 5 | 7/10 6/10 |
Few bone spicule shaped pigment deposits and white dot deposits in the mid periphery Narrowing of the vessels. Waxy optic discs |
Normal | RP | NMNAT1 | |
| V.1 | F | 23 | 5 |
5/10 5/10 |
Few bone Spicule shaped Pigment deposits and white dot deposits in the mid periphery Hyperplasia of the RPE |
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| F17 | V.1 | F | 29 | 20 | 10/10 3/10 |
Typical RP changes with bone spicule shaped pigment deposits in the mid periphery along with normal retinal areas |
Normal macula | RP | PRPH2 | |
| F18 | IV.1 | M | 33 | 11 | 1/20 RE/LE |
Rare bone Spicule shaped Pigment deposits Large areas of retinal atrophy around vessels |
Macular atrophy | RP | FAM161A | |
| IV.3 | F | 28 | 18 | 10/10 RE/LE |
Rare bone Spicule shaped Pigment deposits in mid periphery |
Normal macula | ||||
| F19 | IV.2 | F | 63 | 16 |
3/10 RE 1/10 LE |
Typical RP changes with bone spicule shaped pigment deposits in the mid periphery |
Normal macula | RP | CNGB1 | |
| F20 | II.5 | F | 52 | 10 |
2/10 RE/LE |
Typical RP changes with bone spicule shaped pigment deposits in the mid periphery Yellowish macular deposits |
Atrophy | RP | EYS | |
| F21 | II.5 | F | 32 | 16 | 5/10 RE/LE |
Typical RP changes with bone spicule shaped pigment deposits in the mid periphery |
Normal | RP | EYS | |
| F22 | II.2 | M | 45 | 9 | HM RE/LE | Cone-rod dystrophy with bone spicule deposits and atrophy in the posterior pole and peripheral retina | Macular atrophy | BBS | BBS5 | |
| F23 | II.1 | M | 41 | 8 | 1/20 |
Rare bone spicule shaped pigment deposits in the mid periphery macular atrophy |
Atrophy | BBS | BBS5 | |
| F24 | II.3 | M | 36 | Birth | 1/10 RE/LE |
Normal fundus examination High myopia |
Normal macula | ACHM | CNGA3 | |
| F25 | II.1 | M | 18 | Birth | 2/10 RE/LE | Normal fundus examination | Retrofoveolar ellipsoid dysruption | ACHM | CNGB3 | |
| F26 | II.1 | F | 50 | Before 5 |
2/10 RE /LE |
High myopia, cataract Chorioretinal atrophy |
Atrophy | CSNB | TRPM1 |
CF = counting fingers; HM = hand movements; LP = light perception; HM: hand movement.
RE = right eye; LE = Left eye; RLE = both eyes.
CRD = cone rod dystrophy; STGD = Stargardt macular degeneration; LCA = Leber congenital amaurosis; RP = retinitis pigmentosa; CSNB = congenital stationary night blindness; ACHM = Achromatopsia; BBS = Bardet–Biedl syndrome.
F = female; M = male; PP = posterior pole; RPE = retinal pigment epithelium.