bone spicule pigmentary clumping

Retinitis Pigmentosa 81

Clinical Characteristics
Ocular Features: 

Patients often complain of night vision problems before the age of 5 years.  Fundus changes of optic nerve pallor, retinal vessel attenuation, and bone spicule pigmentary clumping in the midperiphery are evident by the third decade of life.  Progressive RPE and choroidal atrophy in the macula have been described and may be progressive.  ERG responses are absent from at least 28 years of age.

Systemic Features: 

No systemic abnormalities have been reported.


One consanguineous Pakistani family containing 9 affected members with retinal degeneration has been reported.  Homozygosity of a missense mutation in the IFT43 gene (14q24.3) was found in 4 affected sibs.

Autosomal recessive
Treatment Options: 

No treatment has been reported.

Article Title: 

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R. A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751.

PubMed ID: 
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