September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Novel Autosomal Dominant Retinitis Pigmentosa (adrP) Mutation with Features of Gyrate Atrophy
Author Affiliations & Notes
  • James Kasenchak
    Ophthalmology, Geisinger Health System, Danville, Pennsylvania, United States
  • Tamara Vrabec
    Ophthalmology, Geisinger Health System, Danville, Pennsylvania, United States
  • Footnotes
    Commercial Relationships   James Kasenchak, None; Tamara Vrabec, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 126. doi:
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      James Kasenchak, Tamara Vrabec; Novel Autosomal Dominant Retinitis Pigmentosa (adrP) Mutation with Features of Gyrate Atrophy. Invest. Ophthalmol. Vis. Sci. 2016;57(12):126.

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      © 2017 Association for Research in Vision and Ophthalmology.

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Abstract

Purpose : To report a new mutation of autosomal dominant retinitis pigmentosa with fundus findings suggestive of gyrate atrophy (GA) and equivocal serum amino acid levels. Genetic testing identified a novel mutation in the RHO gene consistent with adRP. adRP should be included in the differential diagnosis of gyrate atrophy.

Methods : Multimodal imaging including SD-OCT and fundus photos. ERG and visual field testing were obtained. Urine and serum biochemical profiles and targeted genetic screening were also performed.

Results : A 66-year-old man with a past ocular history of myopia presented with constricted visual fields and night blindness. Exam was significant for cystoid macular edema, pallor of the optic discs, and lacunar chorioretinal atrophy. Subtle bone spicule pigmentation was present in intervening areas. Serum analysis revealed mild hyperornithinemia. Ornithine aminotransferase enzyme levels were normal. ERG rod and cone signals were extinguished. Genetic testing identified a novel mutation in the RHO gene consistent with autosomal dominant retinitis pigmentosa (adRP).

Conclusions : We describe ocular and genetic features of a patient with a novel mutation for adRP. Usually lacunar chorioretinal atrophy would be indicative of gyrate atrophy, but in this case the diagnosis of GA was ruled out with normal ornithine aminotransferase levels and a RHO mutation confirmed the diagnosis of RP. Patients who present with lacunar chorioretinal atrophy are investigated to rule out GA. This case underscores the importance of genetic testing for adRP in these patients. Clinicians should be aware of this new form of adRP that shares clinical characteristics with GA

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

 

Figure 1a. Wide-field fundus photographs show round regions of chorioretinal atrophy located predominantly in the superonasal periphery. Less well-defined depigmentation is present inferiorly. The retinal vessels are attenuated and discs are pale.

Figure 1a. Wide-field fundus photographs show round regions of chorioretinal atrophy located predominantly in the superonasal periphery. Less well-defined depigmentation is present inferiorly. The retinal vessels are attenuated and discs are pale.

 

Figure 1b: 50 degree magnified image of superonasal fundus OD demonstrates pigment clumps in association with and remote from round lesions.

Figure 1b: 50 degree magnified image of superonasal fundus OD demonstrates pigment clumps in association with and remote from round lesions.

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