Retinitis Pigmentosa 42

Clinical Characteristics
Ocular Features: 

The fundus phenotype of retinitis pigmentosa appears late.  Night vision difficulties are prominent symptoms but the age of onset is unknown. Reduction in visual acuity is variable and is usually not manifest until 50 years of age but it may remain near normal or in that range for another decade or two.  Concentric constriction (within 10-20 central degrees) in peripheral fields can be a presenting symptom and may not appear until age 65 years of age.  Patches of visual field retention can sometimes be demonstrated in the periphery.  Rod and cone full field ERG amplitudes are substantially reduced

Systemic Features: 



Heterozygous mutations in KLHL7 (7p15.3) segregate with the clinical phenotype.

Homozygous mutations in the KLHL7 gene cause cold-induced sweating syndrome 3 (CISS3) (617055).

Autosomal dominant
Treatment Options: 

None known.

Article Title: 

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Granse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Goring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andreasson S, Swaroop A. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2009 Jun;84(6):792-800.

PubMed ID: 
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