Table 1 of Asghar, Mol Vis 2025; 31:69-83.


Table 1. Demographic and clinical features of probands of 13 families described in this study.

Sr. No. Family ID Proband ID Age in years at Ethnicity Symptoms
Enrollment Onset
1 RP057 IV.II 12 7 Punjabi RP, Hearing loss, Speech defects, color vision problems, photophobia
2 RP094 III.I 25 By birth Punjabi RP, Hearing loss, Speech defects, Astigmatism
3 RP182 IV.III 44 By birth Punjabi RP, Hearing loss, Speech defects, color vision problems, photophobia
4 RP220 V.V 23 13 Kashmiri RP, Hearing loss, color vision problems, photophobia, Myopia
5 RP243 IV.IX 22 14 Punjabi RP, Hearing loss, color vision problems, photophobia, Strabismus, Maculopathy
6 RP043 IV.V 7 By birth Punjabi RP, Polydactyly
7 RP157 III.XIV 23 6 Pashtun RP, Polydactyly, Astigmatism
8 RP164 V.III 8 8 Pashtun RP, Intellectual disability, Truncal obesity, Macular dystrophy
9 RP173 IV.II 16 By birth Pashtun RP, Polydactyly, Intellectual disability, Rectal dysfunction
10 RD002 V.II 16 7 Punjabi RP, Seizures, Speech problems, Motor and cognitive decline, Behavioral and learning problems, Folded hands, Weak bones
11 RP155 IV.II 31 By birth Pashtun RP, Seizures, Loss of motor skills, Speech problems, Cognitive decline, Mental Retardation
12 RP067 IV.VII 28 By birth Balochi RP, Situs inversus, Photophobia, Sinusitis
13 RP151 IV.V 15 By birth Pashtun RP, hearing loss, Myopia, Premature arthritis, Speaking defect, Aggressive behavior