attenuation of retinal vessels

Leber Congenital Amaurosis with Early-Onset Deafness

Clinical Characteristics
Ocular Features: 

Evidence for retinal disease can be seen within 3 years of age.  Three of 5 patients had no detectable responses on the ERG when tested at birth.  A 34-year-old female was noted to have advanced retinitis pigmentosa with attenuation of retinal vessels, choroidal atrophy, peripheral pigmentary deposits, and macular anomalies.  The posterior fundus may have a salt-and-pepper pigmentation.  Hypermetropia was present in all 5 patients.

Visual acuity varies widely and may be normal even among older patients.

Systemic Features: 

Mild to severe sensorineural hearing loss secondary to cochlear cell loss is usually diagnosed in the first decade.  All patients had normal neuro-psychomotor development.

Genetics

Heterozygous mutations in the TUBB4B gene (9q34.3) have been found in 5 individuals in 4 families with this disorder.  There may be significant mosaicism in blood cells.

See Leber Congenital Amaurosis for additional information on non-syndromal Leber congenital amaurosis and responsible mutations.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment is available for the general condition but refractive correction, low vision aids, and assistive hearing devices may be of benefit.

References
Article Title: 

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I. Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. Am J Hum Genet. 2017 Dec 7;101(6):1006-1012.

PubMed ID: 
29198720

Retinitis Pigmentosa 78

Clinical Characteristics
Ocular Features: 

Onset of visual complaints is in the third or fourth decades with night blindness and visual field defects.  These symptoms are progressive with the oldest of three reported patients having 20/1250 vision at 51 years of age.  Classic signs of retinitis pigmentosa are usually present including disc pallor, pigment clumping, peripheral field constriction, and attenuated retinal vessels.  Intraretinal cysts may be detected with optical coherence tomography.  The full-field ERG shows general photoreceptor dysfunction with the rods most severely involved while pattern ERGs shows variable macular involvement.

Systemic Features: 

No systemic disease has been detected in the three reported individuals.

Genetics

Three unrelated individuals have been reported with homozygous or compound heterozygous mutations in the ARHGEF18 gene (19p13.2).   Five different mutant alleles were found among these patients.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported but low vision aids might be helpful.

References
Article Title: 

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium., Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium., Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. Am J Hum Genet. 2017 Feb 2;100(2):334-342.

PubMed ID: 
28132693
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