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 [1] gene (2p23).

Treatment

Treatment Options:

No treatment has been reported.

References

Article Title:

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies [2]

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

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families [3]

Kastner S, Thiemann IJ, Dekomien G, Petrasch-Parwez E, Schreiber S, Akkad DA, Gerding WM, Hoffjan S, Gunes S, Gunes S, Bagci H, Epplen JT. Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8045-53.

PubMed ID:

26720455