Mathieu F Bakhoum1,2,3, Jesse D Sengillo1,2, Xuan Cui1,2, Stephen H Tsang1,2,4. 1. Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, New York. 2. Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York. 3. Department of Ophthalmology, Nassau University Medical Center, East Meadow, New York. 4. Department of Pathology and Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York.
Abstract
PURPOSE: To describe a patient with a PITPNM3 missense mutation who developed late-onset autoimmune retinopathy. METHODS: Case report. RESULTS: An 85-year-old man presented with decreased vision, nyctalopia, and photoaversion after an uncomplicated cataract surgery. Multimodal retinal imaging revealed a scalloped pattern of atrophy and a ring of hyperautofluorescence in the perifoveal area on fundus autofluorescence. Spectral domain optical coherence tomography demonstrated loss of the ellipsoid band, along with outer retinal atrophy, sparing the fovea in both eyes. Full field electroretinogram revealed extinguished rod response and severely attenuated cone response. Antiretinal antibodies to 20-kDa and 125-kDa proteins were detected. Whole-exome sequencing revealed a heterozygous variant, c.2579T>C, p.(Ile860Thr) in PITPNM3, predicted to be severely damaging and deleterious to the protein structure and function. Over the course of 3 months, the patient experienced a rapid progression. Neoplastic workup was negative and he was started on immunosuppressive therapy for a presumed diagnosis of nonparaneoplastic autoimmune retinopathy. CONCLUSION: To the authors' knowledge, this is the first report of autoimmune retinopathy in a patient with PITPNM3 mutation. PITPNM3 has been previously shown to affect regulatory T cell function.
PURPOSE: To describe a patient with a PITPNM3 missense mutation who developed late-onset autoimmune retinopathy. METHODS: Case report. RESULTS: An 85-year-old man presented with decreased vision, nyctalopia, and photoaversion after an uncomplicated cataract surgery. Multimodal retinal imaging revealed a scalloped pattern of atrophy and a ring of hyperautofluorescence in the perifoveal area on fundus autofluorescence. Spectral domain optical coherence tomography demonstrated loss of the ellipsoid band, along with outer retinal atrophy, sparing the fovea in both eyes. Full field electroretinogram revealed extinguished rod response and severely attenuated cone response. Antiretinal antibodies to 20-kDa and 125-kDa proteins were detected. Whole-exome sequencing revealed a heterozygous variant, c.2579T>C, p.(Ile860Thr) in PITPNM3, predicted to be severely damaging and deleterious to the protein structure and function. Over the course of 3 months, the patient experienced a rapid progression. Neoplastic workup was negative and he was started on immunosuppressive therapy for a presumed diagnosis of nonparaneoplastic autoimmune retinopathy. CONCLUSION: To the authors' knowledge, this is the first report of autoimmune retinopathy in a patient with PITPNM3 mutation. PITPNM3 has been previously shown to affect regulatory T cell function.
Authors: Luiz H Lima; Jonathan P Greenberg; Vivienne C Greenstein; R Theodore Smith; Juliana M F Sallum; Charles Thirkill; Lawrence A Yannuzzi; Stephen H Tsang Journal: Retina Date: 2012-07 Impact factor: 4.256
Authors: Linda Köhn; Konstantin Kadzhaev; Marie S I Burstedt; Susann Haraldsson; Bengt Hallberg; Ola Sandgren; Irina Golovleva Journal: Eur J Hum Genet Date: 2007-03-21 Impact factor: 4.246
Authors: Ru Zhou; Reiko Horai; Phyllis B Silver; Mary J Mattapallil; Carlos R Zárate-Bladés; Wai Po Chong; Jun Chen; Rachael C Rigden; Rafael Villasmil; Rachel R Caspi Journal: J Immunol Date: 2012-01-11 Impact factor: 5.422