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. Author manuscript; available in PMC: 2012 Oct 4.
Published in final edited form as: Arch Ophthalmol. 2011 Oct;129(10):1351–1357. doi: 10.1001/archophthalmol.2011.267

Table 1.

Clinical Characteristics of Individuals in the 5 Pakistani Families With Pathogenic Mutations in TULP1a

Family Mutation Protein
Change		 Electroretinographic
Findings
PKRP063 c.A1138G T380A Diminished rod and cone responses under scotopic conditions, absent isolated cone response
PKRP122 c.A1466G K489R NA
PKRP171 c.A1466G K489R NA
PKRP111 c.A1466G K489R NA
PKRP084 c.A1466G K489R NA

Abbreviation: NA, not available.

a

All individuals had early-onset progressive disease. Fundus examination in all individuals showed artery attenuation, pigment deposit, and pale optic disc.