TY - JOUR
T1 - CHORIORETINAL CHANGES in A GENETICALLY CONFIRMED CASE of BOUCHER-NEUHAUSER SYNDROME
AU - Denaro, Brittany B.
AU - Dhrami-Gavazi, Elona
AU - Rubaltelli, David M.
AU - Freund, K. Bailey
AU - Lee, Winston
AU - Yannuzzi, Lawrence A.
AU - Tsang, Stephen H.
AU - Kang, Joann J.
N1 - Publisher Copyright:
© 2021 Lippincott Williams and Wilkins. All rights reserved.
PY - 2021/3/1
Y1 - 2021/3/1
N2 - Purpose:To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene.Methods:Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS.Results:Clinical examination and multimodal imaging documented focal outer retinal and retinal pigment epithelium changes including bilateral foveal stippling and a circular area of hypopigmentation in the superior macula of the left eye. Optical coherence tomography showed a linear area of outer retinal attenuation superonasal to the fovea and multiple foci of pinpoint outer retinal defects in the temporal macula of the left eye. Humphrey visual field 24-2 testing showed nonspecific defects in both eyes. Full-field electroretinography showed no evidence of a generalized retinal dysfunction.Conclusion:Recognition that the chorioretinal abnormalities occurring in BNS can be rather subtle is essential because the diagnosis of BNS may depend on their detection. To the best of our knowledge, this is the first report in the ophthalmic literature of mild chorioretinal changes in a patient with BNS testing positive for a mutation in the PNPLA6 gene.
AB - Purpose:To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene.Methods:Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS.Results:Clinical examination and multimodal imaging documented focal outer retinal and retinal pigment epithelium changes including bilateral foveal stippling and a circular area of hypopigmentation in the superior macula of the left eye. Optical coherence tomography showed a linear area of outer retinal attenuation superonasal to the fovea and multiple foci of pinpoint outer retinal defects in the temporal macula of the left eye. Humphrey visual field 24-2 testing showed nonspecific defects in both eyes. Full-field electroretinography showed no evidence of a generalized retinal dysfunction.Conclusion:Recognition that the chorioretinal abnormalities occurring in BNS can be rather subtle is essential because the diagnosis of BNS may depend on their detection. To the best of our knowledge, this is the first report in the ophthalmic literature of mild chorioretinal changes in a patient with BNS testing positive for a mutation in the PNPLA6 gene.
KW - Boucher-Neuhäuser syndrome
KW - PNPLA6 genetic mutation
KW - chorioretinal dystrophy
KW - hypogonadotropic hypogonadism
KW - spinocerebellar ataxia
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U2 - 10.1097/ICB.0000000000000769
DO - 10.1097/ICB.0000000000000769
M3 - Article
C2 - 30015775
AN - SCOPUS:85102218591
SN - 1935-1089
VL - 15
SP - 179
EP - 184
JO - Retinal Cases and Brief Reports
JF - Retinal Cases and Brief Reports
IS - 2
ER -