Search results (65 results)

Jan 27 2025 by Vishal Agrawal, MD, FRCS,FACS,FASRS

16 year-old male patient presented with DOV, nyctalopia and nystagmus. Fundus revealed pigment clumping, pale disc and preserved para-arteriolar retinal pigment epithelium (PPRPE) in both eyes. Genetic testing revealed CRB1 gene mutation.

Photographer: Dr Ayushi

Imaging device: Clarus 700

Condition/keywords: retinitis pigmentosa

Aug 30 2023 by Vishal Agrawal, MD, FRCS,FACS,FASRS

12 year old male patient presented with photophobia, decrease in vision and Nystagmus. Bulls eye maculopathy gives an appearance of an eye on the fovea on color fundus photo due to nystagmus.

Photographer: Dr Bhagyashree

Imaging device: Clarus 700

Condition/keywords: bull's eye maculopathy, Cone-Rod Dystrophy

Oct 24 2020 by Guilherme Daher

Optical coherence tomography of a patient with oculocutaneous albinism showing a flat fovea.

Photographer: Jefferson Rocha, Instituto Suel Abujamra, Sao Paulo Brazil

Imaging device: Zeiss Cirrus HD-OCT 5000

Condition/keywords: albinism, fovea, foveal hypoplasia, nystagmus, oculocutaneous albinism, optical coherence tomography (OCT)

Aug 25 2024 by César Adrián Gómez Valdivia, MD

Fundus photograph of a 6-year-old female patient with foveal hypoplasia, ocular albinism and pendular nystagmus. Findings were bilateral. Retinal and Choroidal vasculature are exquisitely beautiful.

Photographer: @eyemissu2

Imaging device: TOPCON TRC-50DX

Condition/keywords: albinism, foveal hypoplasia, ocular albinism

May 1 2020 by Anfisa Ayalon, MD

Slit-lamp photograph of an 34-year-old man with oculocutaneous albinism. Note iris transillumination defects. Snellen chart visual acuity in both eyes-6/60. Nystagmus is also present.

Photographer: Anfisa Ayalon, MD., Meir Medical Center, Kfar Saba, Israel.

Condition/keywords: iris, nystagmus, oculocutaneous albinism, transillumination

Jan 27 2025 by Vishal Agrawal, MD, FRCS,FACS,FASRS

16 year-old male patient presented with DOV, nyctalopia and nystagmus. Fundus revealed pigment clumping, pale disc and preserved para-arteriolar retinal pigment epithelium (PPRPE) in both eyes. Genetic testing revealed CRB1 gene mutation.

Photographer: Dr Ayushi Gupta

Imaging device: Clarus 700

Condition/keywords: retinitis pigmentosa

Jan 22 2023 by Pietro Dechichi

Fundus photograph of a 6-year-old girl with oculocutaneous albinism. Patient's nystagmus made it difficult to perform the exam. Foveal hypoplasia and evident choroidal vessels can be seen in the retinography

Photographer: Pietro Dechichi

Imaging device: Optos California

Condition/keywords: childhood, foveal hypoplasia, 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 (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 28 2019 by Albert Li, MD, FASRS

Fundus photograph of 38-year-old man with congenital horizontal nystagmus.

Condition/keywords: achromatopsia

Oct 28 2019 by Albert Li, MD, FASRS

Fundus photograph of 38-year-old man with congenital horizontal nystagmus.

Condition/keywords: achromatopsia

Aug 25 2024 by César Adrián Gómez Valdivia, MD

Fundus photograph of a 6-year-old female patient with foveal hypoplasia, ocular albinism and pendular nystagmus. Findings were bilateral. Retinal and choroidal vasculature are exquisitely beautiful.

Photographer: @eyemissu2

Imaging device: TOPCON TRC-50DX

Condition/keywords: Albinism, foveal hypoplasia, ocular albinism, vascula

Aug 29 2024 by César Adrián Gómez Valdivia, MD

Fundus photograph of a 64-year-old female patient with foveal hypoplasia, ocular albinism and pendular nystagmus. Findings were bilateral. Retinal and choroidal vasculature are exquisitely beautiful.

Photographer: @eyemissu2

Imaging device: California ICG OPTOS

Condition/keywords: foveal hypoplasia, ocular albinism

Aug 29 2024 by César Adrián Gómez Valdivia, MD

Fundus photograph of a 6-year-old female patient with foveal hypoplasia, ocular albinism and pendular nystagmus. Findings were bilateral. Retinal and choroidal vasculature are exquisitely beautiful.

Photographer: @eyemissu2

Imaging device: TOPCON TRC-50DX

Condition/keywords: foveal hypoplasia, ocular albinism

Feb 1 2025 by Poornachandra B, MS, FVRS

This is a wide field autofluorescence image of 21 year-old male. He presented with history of low vision since childhood associated with nystagmus. Uniform fluorescence across posterior pole with absent foveal hypo autofluorescence can be seen on the image.

Photographer: Mr Dhikshith

Condition/keywords: autofluorescence imaging, foveal hypoplasia, nystagmus, ultra-wide field imaging

Aug 24 2020 by Sophia El Hamichi, MD

A 4-month-old female with family history of congenital cataract was referred for bilateral congenital cataract with nystagmus and torticoli. During the ophthalmological exam we were able to access the fundus and perform a fluorescein angiogram through the clear ring surrounding the lens opacity. Retina evaluation showed no abnormalities.

Photographer: Abby Orcutt-Hayes, Murray Ocular Oncology and Retina

Imaging device: RetCam

Condition/keywords: congenital cataract, lamellar cataract, nystagmus

Jan 24 2020 by Deepak Bhojwani, MS

Fundus image of a 22-year-old gentlemen with poor vision since childhood with nystagmus. fundus photo showing macular coloboma which is rarely seen in macular dystrophies.

Photographer: DEEPAK BHOJWANI

Condition/keywords: macular dystrophy

Jan 24 2020 by Deepak Bhojwani, MS

Fundus image of a 22-year-old gentlemen with poor vision since childhood with nystagmus. Fundus photo showing macular coloboma which is rarely seen in macular dystrophies.

Photographer: DEEPAK BHOJWANI

Condition/keywords: coloboma of macula, macular dystrophy

Aug 31 2020 by Sophia El Hamichi, MD

A 1-year-old female with Marfan's syndrome, myopia OU, congenital nystagmus and exotopia OD. Ultra-wide field imaging of her left eye showed lattice degeneration with atrophic retinal holes temporally, in addition to multiple sections of white without pressure.

Imaging device: Optos

Condition/keywords: atrophic retinal hole, lattice degeneration, Marfan's syndrome, myopia, Optos, ultra-wide field imaging

Oct 28 2019 by Albert Li, MD, FASRS

OCT of 38-year-old man with congenital horizontal nystagmus with central ellipsoid zone loss.

Imaging device: Heidelberg Spectralis

Condition/keywords: achromatopsia