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Maryam Mokhtarzadeh, Meral Gunay-Aygun, William A. Gahl, Ekaterina Tsilou, Wadih M. Zein, Brian P. Brooks; Ophthalmic Findings in Patients with Joubert Syndrome. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1571.
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Joubert syndrome is a genetically heterogeneous ciliopathy characterized by developmental brain abnormalities (e.g., the "molar tooth sign") and a spectrum of systemic findings. The ophthalmic findings of Joubert syndrome have previously been described in small case series. We present here the findings from a large case series of 55 subjects with Joubert syndrome.
As a part of a prospective natural history protocol on ciliopathies (www.clinicaltrials.gov, NCT00068224) 55 patients with Joubert syndrome were examined in the National Eye Institute Ophthalmic Genetics Clinic between 2/12/2007 and 11/29/2011.
Four ophthalmologists examined 55 patients between the ages of 0.5 months-27 years old (including 23 females and 32 males). Visual acuity in the better seeing eye ranged from 20/20 to no light perception (n=52). Hyperopia was present in 45% of subjects and myopia in 57% (n=47). Astigmatism was present in 94% of patients (astigmatism greater than one diopter was noted in 55% of these patients). Color vision was tested in 12 patients and was normal in 58%. Seventy-four percent of patients had strabismus with exotropia being the most common deviation (n=47; 12 patients had prior strabismus surgery). Forty-nine percent of patients were noted to have some degree of oculomotor apraxia (n=55). Thirty-three percent (18/54) had uveal coloboma. 67% (12/18)of these subjects had bilateral coloboma; 28% (5/18) clearly involved the optic nerve while 61% (11/18) had an optic nerve abnormality; 89% (16/18) had uveal coloboma specifically involving the retina; and only 1 subject had a uveal coloboma involving the iris. Fifty-nine percent of patients had nystagmus on examination (n=53) while 37% had ptosis or had a prior ptosis repair (n=52). Of the 18 patients who had an ERG, 63% had abnormal results. Some degree of retinal degeneration was noted on examination in 34% patients (n=50).
In this large cohort of 55 patients with Joubert syndrome, we were able to determine the incidence of typical ophthalmic findings in Joubert syndrome including oculomotor apraxia, nystagmus, coloboma, ptosis, and retinal degeneration.
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