Ocular Conditions

Duanes Retraction Syndrome SYMPTOMS Diplopia, Typically normal vision SIGNS Typically unilateral Non-progressive strabismus in primary gaze with compensating head position to align the eyes, May see upshoots or downshoots with adduction (Leash phenomenon), Globe retraction with narrowing of the palpebral fissure when adducting, Possible amblyopia, Hyperopic refractive error that is typically greater than +1.50, Poor…

Brown Syndrome SYMPTOMS Diplopia, May hear a “click” sound when trying to elevate the eye with adduction Acquired Brown syndrome secondary to etiologies such as inflammation and tumors can cause orbital pain and tenderness SIGNS Typically unilateral Limited or absent elevation with adduction, Downshoot with adduction (seen more in moderate cases), Hypotropia in primary gaze…

Coats Disease SYMPTOMS Leukocoria, Decrease in vision, Eye turn SIGNS Typically unilateral (95% of the time) Retinal telangiectasias, Dilated capillaries with microaneurysms, Extensive retinal exudates, Venous sheathing, Retinal detachments, Rubeosis iridis, Secondary angle closure glaucoma WORK-UP Pupils, EOMs, Cover test, Gonioscopy, Full eye exam with dilated retinal exam, OCT analysis of the macula, OCT-Angiography, Fundus…

Retinopathy of Prematurity SYMPTOMS Decrease in vision SIGNS Acute phase Stage 1: Presence of a thin, white, and flat demarcation line between the vascularized posterior retina and non-vascularized anterior retina Stage 2: The demarcation line becomes an elevated ridge and is present above the plane of the retina. Small tufts of new blood vessels are…

Retinoblastoma SYMPTOMS Leukocoria, Eye turn, Loss of vision, Eye pain SIGNS Typically unilateral (60% of the time) Leukocoria, Strabismus, Rubeosis iridis, Pseudohypopyon, Hyphema, Solid and elevated white retinal tumor with angiomatous dilatation of vessels and calcificiations, Exudative retinal detachment, Vitreous haze WORK-UP Pupils (typically unilateral leukocoria), EOMs, Cover test, Ptosis evaluation, Exophthalmometry, Full eye exam…

Retinitis Pigmentosa SYMPTOMS Nyctalopia (most common symptom), Vision loss, Visual field defects, Color vision defects, Photophobia, Flashes SIGNS Bilateral Early signs: Arteriolar narrowing with fine pigmentary changes in the mid-peripheral retina Late signs: Bone spicule pigment clumping with areas of chorioretinal atrophy that start in the mid-periphery and spread to the far periphery and posterior…

Albinism SYMPTOMS Decrease in vision, Photophobia, Decrease in depth perception SIGNS Bilateral Light color irides, Diffuse iris transillumination defects, Blonde fundus from the periphery to the posterior pole, Foveal hypoplasia WORK-UP Pupils, EOMs (may present with a pendular nystagmus), Color vision, Full eye exam with dilation, Visual field, OCT of the macula, Fundus Autofluorescence, Fluorescein…

Gyrate Atrophy SYMPTOMS Nyctalopia, Vision loss, Visual field defects, Color vision defects SIGNS Bilateral Small areas of chorioretinal atrophy with scalloped borders that start in the mid-peripheral retina and will eventually coalesce into larger areas of chorioretinal atrophy and spread to the far periphery and posterior pole (the macula is affected last), RPE clumping, Loss…

Choroideremia SYMPTOMS Nyctalopia, Vision loss, Visual field defects, Color vision defects SIGNS Bilateral RPE pigment clumping with subsequent chorioretinal atrophy that starts in the mid-periphery and spreads into the far periphery and posterior pole (the macula is affected last), Exposure of sclera, Exposure of large choroidal vessels, Posterior subcapsular cataracts (associated in 31% of patients)…

Tilted Optic Disc Syndrome SYMPTOMS Typically asymptomatic but patients can sometimes experience Reduced color vision and Visual field defects SIGNS Typically bilateral Optic disc that is typically rotated inferior nasal (65% of the time in this orientation), Chorioretinal atrophy and/or scleral/choroidal crescent, Situs inversus (found in 70% of patients), Inferior staphyloma Patients with tilted optic…