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 | ||||||
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 | |||||
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 |
