Title: EyeRounds / Retina and Vitreous / StoneRounds / Clinical Simulator
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A: Night blindness and constricted visual fields as the earliest symptoms; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT.; Retinitis Pigmentosa

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A: Reduced acuity and photophobia as the earliest symptoms; a bull's eye appearance of the fovea with a relatively normal fundus appearance more anteriorly; loss of foveal photoreceptors on OCT; global depression of the Goldmann visual field (complete loss of the I2e isopter).; Cone Dystrophy

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A: Childhood onset hearing loss correctable with hearing aids; night blindness and constricted visual fields as the earliest visual symptoms; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; and, normally sighted parents.; Usher Syndrome

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A: Bone-spicule-like pigmentation, narrowed arterioles and macular atrophy on ophthalmoscopy; photoreceptor loss on OCT; ulnar polydactyly, obesity, abnormal cognition, hypertension; and, normally sighted parents.; Bardet Biedl Syndrome

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A: 20/20 acuity at age 4 falling to 20/320 by age 5, bulls-eye macular lesions, narrowed retinal arterioles, extensive loss of outer retinal layers on OCT, a similarly affected sister and normally sighted parents.; Batten Disease

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A: Night blindness and reduced acuity noted before the fourth birthday; a non-recordable ERG; constricted visual fields; pink optic nerve heads; hyperopia; abnormal renal function; and, normally sighted parents.; Senior-Loken Syndrome

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A: Ocular motor apraxia noticed shortly after birth; delay in learning to walk; reduced acuity; night blindness; constricted visual fields; pink optic nerve heads; and, normally sighted parents.; Joubert Syndrome

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A: A pigmented chorioretinopathy extending from the macula to the inferonasal periphery of both eyes; microcephaly; stable subnormal intelligence; subnormal acuity; and, a history of puffy feet as a child.; Microcephaly-Chorioretinopathy-Lymphedema Syndrome

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A: Constricted visual fields; night blindness; bone-spicule-like pigmentation and narrowed arterioles on ophthalmoscopy; photoreceptor loss on OCT; a wide-based gait, absent proprioception and vibration sense in the patient’s fingers and toes; and, normally sighted parents.; Retinitis Pigmentosa with Ataxia

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A: Light perception vision since shortly after birth; nystagmus; a relatively normal fundus appearance with pink optic disks; hyperopia; and normally sighted parents.; Leber Congenital Amaurosis

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A: Childhood onset hearing loss correctable with hearing aids; amelogenesis imperfecta; thinning of the outer nuclear layer on OCT with a corresponding visual field defect; a similarly affected sibling; and, normally sighted parents.; Peroxisomal Biogenesis Disorders

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A: Nystagmus noted shortly after birth; reduced acuity for the patient’s entire life, a non-recordable ERG, legal blindness before age 10 (visual field criterion), a relatively normal fundus appearance with pink optic disks; hyperopia; and, normally sighted parents.; Severe Early Childhood Onset Retinal Dystrophy

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A: Bone-spicule-like pigmentation and narrowed arterioles on ophthalmoscopy; photoreceptor loss on OCT; developmental delay; stable reduced cognition; long tapered fingers; a shortened philtrum; a gregarious personality; a low neutrophil count; a similarly affected sibling; and, normally sighted parents.; Cohen Syndrome

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A: Constricted visual fields noticed in the first year of life; reduced acuity, a non-recordable ERG, pink optic nerve heads; hyperopia; and, normally sighted parents.; Early Childhood Onset Retinal Dystrophy

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A: Nystagmus noticed in the first year of life; reduced acuity, very poor color vision, a normal fundus appearance, a normal OCT, normally sighted parents and absence of a similarly affected male elsewhere in his mother's family.; Achromatopsia

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A: Childhood onset periodic fever; mild microcytic anemia; anisocytosis on peripheral blood smear; night blindness and constricted visual fields were the earliest visual symptoms; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; and, normally sighted parents.; Retinitis Pigmentosa with Anemia

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A: Stable reduced acuity, photophobia and very poor color vision since early childhood, a normal fundus appearance, normally sighted parents and two similarly affected male relatives on the maternal side of his family.; Blue cone monochromacy

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A: Large, bright yellow vitelliform lesions, relatively good visual acuity and an extensive autosomal dominant family history.; Best disease

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A: Large, bright yellow, reticular subretinal deposits, relatively good visual acuity and an extensive autosomal dominant family history.; Pattern dystrophy

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A: Stable night blindness since at least the second year of life, normally sighted parents, nummular pigment in the mid-periphery of the fundus that stops abruptly at the temporal arcades and disorganization of the retinal layers (seen on OCT) anterior to the temporal arcades.; Congenital stationary night blindness

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A: Nystagmus noticed in the first year of life; reduced acuity; normal color naming; a normal fundus appearance; a normal OCT; selective loss of the b-wave on the scotopic bright flash ERG; male gender; normally sighted parents; and, a similarly affected maternal grandfather and maternal male cousin.; Congenital stationary synaptic dysfunction

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A: Angioid streaks radiating from the disk OU; peau d'orange stippling temporal to the fovea OU; "plucked chicken" skin abnormalities on his neck and normally sighted parents.; Pseudoxanthoma elasticum

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A: Loss of acuity at the beginning of the second decade, parafoveal photoreceptor loss on OCT, pisciform flecks in the macula with clear peripapillary sparing, and normally sighted parents.; Autosomal recessive Stargardt disease

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A: Foveal-sparing geographic atrophy, diabetes mellitus, deafness, external ophthalmoplegia, ptosis, muscle weakness, renal failure and impaired cognition.; Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes (MELAS)

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A: Confluent drusen with dark cores, relatively good visual acuity, radial drusen temporal and inferior to the macula, large peripapillary drusen and an extensive autosomal dominant family history.; Malattia Leventinese

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A: Reduced acuity with a near-normal ophthalmoscopic appearance, a history of normal acuity in childhood; and, a "moth-eaten" appearance of the macular ellipsoid zone on OCT.; Occult macular dystrophy

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A: Nummular choroidal loss, normal caliber retinal arterioles, male gender and a family history of males with severe vision loss on his mother's side of the family.; Choroideremia

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A: Loss of acuity in the second decade; horizontally oval geographic atrophy centered on fixation and surrounded by yellow pisciform flecks; and, a family history compatible with autosomal dominant disease.; Stargardt-like dominant macular dystrophy

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A: Stellate macular schisis visible on ophthalmoscopy, cystic spaces in the inner nuclear layer visible on OCT, male gender and a similarly affected maternal grandfather.; Retinoschisis

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A: Atrophic macular lesions surrounded by a gliotic rim; visual acuity better than one would expect given the anatomy; and, a similarly affected mother.; North Carolina macular dystrophy

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A: Temporal pallor of the optic disks, an otherwise normal fundus appearance, and selective thinning of the nerve fiber layer on OCT.; Dominant optic atrophy

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A: Choroidal neovascularization of the macula in the third decade of life; dark black pigment in the macula with an irregular outline; and, a similarly affected parent.; Sorsby fundus dystrophy

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A: Multiple retinal hemangioblastomas in both eyes and a family history of similarly affected relatives with an autosomal dominant pattern (multiple generations -- male to male transmission).; Tumors  (von Hippel Lindau)

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A: Extensive radial lattice degeneration, a personal and family history of rhegmatogenous retinal detachment, a history of cataract surgery before age 30 (and very high myopia before that), arthritis in her knees and hips and a slightly flattened mid-face.; Vitreoretinopathies (Stickler syndrome)

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A: Nystagmus noted shortly after birth; reduced acuity; pale skin; almost white hair; pink irides and normally sighted parents.; Albinism

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A: Nystagmus noted shortly after birth; lifelong stable reduced acuity; brown hair and irides; and, the absence of a foveal depression on OCT.; Isolated Foveal hypoplasia