Table 1 of Akhtar, Mol Vis 2025; 31:206-219.

Table 1. Demographic and clinical features of probands of IRDs families described in this study.

Sr. No. Family ID Proband ID Clinical diagnosis Disease progression Age at enrollment
(years) Ethnicity No. of Affected cases in family Visual acuity Symptoms
OD OS Color vision defect Photo
phobia Nystagmus Nyctalopia Hemeralopia Other/s
1 RD001 V.VI CD/ACHM Stationary 39 Punjabi 5 NA NA + + + - + -
2 RD004 IV.III Maculopathy/
Complete ACHM Stationary 10 Kashmiri 4 6/60** 6/60** + + + + - Hyperopia
3 RD021 IV.IV CRD Progressive 9 Pashtun 2 6/38** 6/48** + + + - - Hyperopia
4 RD025 IV.I CRD/
Maculopathy Progressive 20 Pashtun 2 NA NA + + + + + -
5 RD028 VI.IV BVMD Stationary 8 Punjabi 3 C.F*** C.F*** + + + - + Hyperopia
6 RD031 IV.II CRD Progressive 11 Kashmiri 6 6/60** 6/60** + - + - - Hyperopia
7 RD053 IV.III RP Progressive 45 Punjabi 2 NA NA - - - + + -
8 RP125 IV.II CD/CRD/
Incomplete ACMH Progressive 4 Punjabi 3 NA NA + + + - - -

Abbreviations: OD: right eye, OS: left eye, C.F: Counting fingers, NA: Not Available, CD: cone dystrophy, CRD: cone-rod dystrophy, BVMD: Best vitelliform macular dystrophy, RP: Retinitis Pigmentosa, ACMH: Achromatopsia. The ** symbol indicates the visual acuity was calculated using Early Treatment Diabetic Retinopathy Study (ETDRS) chart, The *** symbol indicates the visual acuity was measured using Snellen Chart.

Akhtar, Mol Vis 2025; 31:206-219. http://www.molvis.org/molvis/v31/206

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