constricted visual fields

Retinitis Pigmentosa 77

Clinical Characteristics
Ocular Features: 

The onset of nyctalopia apparently varies from early childhood to 20 years of age and is usually the presenting symptom.  The loss of acuity is progressive (20/30 to 20/400) with older patients generally having more severe loss but there is little direct correlation with age.  Peripheral fields are progressively constricted, ranging from 10 to 30 degrees.  Some patients develop posterior subcapsular cataracts.  Retinal pigmentation is often mottled but 'bone spicules' are seen in about half of individuals.  Retinal vessels are narrowed.  The ERG shows generalized rod-cone dystrophy.

Systemic Features: 

No systemic abnormalities have been reported.

Genetics

Homozygous or compound heterozygous mutations in the REEP6 gene (19p13.3) are responsible for this disorder.  Five unrelated families have been reported.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported although cataract removal may be visually beneficial.  

References
Article Title: 

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE; UKIRDC., Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315.

PubMed ID: 
27889258

Retinal Dystrophy and Obesity

Clinical Characteristics
Ocular Features: 

The age of onset of symptoms is unknown but based on the report of a single family with three affected sibs, it may occur early in the second decade. Patients may note some loss of night vision and the visual fields are restricted.  The ERG responses are consistent with a generalized rod-cone dystrophy.  Fundoscopy reveals a generalized RPE atrophy together with arteriolar attenuation, peripheral pigmentary mottling and scattered white dots.  A nonspecific dyschromatopsia can be demonstrated but the fovea is relatively normal and central acuity is remarkably good.  Little is known about disease progression but an 18 year old male reported decreasing vision since the age of 11 years.  

Systemic Features: 

Obesity and a high BMI may be present.

Genetics

Homozygous mutations in the TUB gene (11p15) segregated with this disorder in a sibship from a consanguineous family.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 
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