Search results (10 results)

Jan 22 2019 by John S. King, MD

14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks (photo). Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

Photographer: Gretchen Harper

Imaging device: Optos California

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Jan 22 2019 by John S. King, MD

14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks (photo). Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

Photographer: Gretchen Harper

Imaging device: Optos California

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Jan 22 2019 by John S. King, MD

14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks (photo). Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

Photographer: Gretchen Harper

Imaging device: Optos California

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Jan 22 2019 by John S. King, MD

14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks, which are very prominent in this late phase FA of the right eye. Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

Photographer: Gretchen Harper

Imaging device: Optos California

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Jan 22 2019 by John S. King, MD

14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks that are very prominent on this late phase FA OS. Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

Photographer: Gretchen Harper

Imaging device: Optos California

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Jan 22 2019 by John S. King, MD

14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks (photo). Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

Photographer: Gretchen Harper

Imaging device: Optos California

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Jan 22 2019 by John S. King, MD

14-year-old healthy white female with family history of ocular albinism was seen by Dr. Hruby for a second opinion. Father and some of his brothers were positive for a history of ocular albinism. Va cc 20/30 J1+ OU; no nystagmus; no TIDs; no foveal hypoplasia. A "mud-spatter" appearance to the posterior pole was present, along with peripheral alternating streaks. Hypoautofluorescent areas correspond to hyperpigmented areas of retinal pigment epithelium, and vice versa (see photo). Dr. Hruby agreed that this was most likely a carrier of Ocular Albinism Type-1 (XR; GPR143 mutation), and possible genetic testing/counselling was discussed.

Photographer: Gretchen Harper

Imaging device: Optos California

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Oct 22 2012 by Ronald C. Gentile, MD

Anterior segment photo revealed lightly pigmented iris and yellow-white lashes. His complexion was much lighter then both his parents and unaffected siblings.

Photographer: The New York Eye & Ear Infirmary Department of Medical Imaging

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Oct 22 2012 by Ronald C. Gentile, MD

Fundus photo of the right eye in a 10-year-old boy with X-linked ocular albinism.

Photographer: The New York Eye & Ear Infirmary Department of Medical Imaging

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism

Oct 22 2012 by Ronald C. Gentile, MD

Fundus photo of a 10-year-old boy with X-linked ocular albinism.

Photographer: The New York Eye & Ear Infirmary Department of Medical Imaging

Condition/keywords: Nettleship-Falls ocular albinism, ocular albinism