AGBL5

Retinitis Pigmentosa 75

Clinical Characteristics
Ocular Features: 

Symptoms of night blindness and tunnel vision (restricted peripheral fields) are present in the first decade of life.  The fundus appearance is typical for retinitis pigmentosa.  Attenuated retinal vessels with a bone spicule pattern of pigment clumping are present.  Evidence of optic atrophy with waxy pallor of the disc is usually visible.   High myopia (>6 diopters) is frequently present.

Systemic Features: 

No systemic disease has been associated with this disorder.

Genetics

This condition generally follows an autosomal recessive inheritance pattern as the result of homozygous mutations in the AGBL5 gene (2p23).

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet Med. 2016 Jun;18(6):554-62.

PubMed ID: 
26355662
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