ABSTRACT
We studied the albinotic characteristics in 13 members of a white family (age range, 2 to 73 years), which were graded according to severity and were correlated with visual acuity. Clinical, electrophysiologic, and biochemical characteristics of this family do not fit any known category of human albinism. The degree of heterogeneity in expression of albinotic features was unexpected. The correlation between visual acuity and nystagmus was particularly strong. The brown-haired propositus had severe skin involvement, iris transillumination, fundus hypopigmentation, and foveal hypoplasia. He had no manifest nystagmus, however, and his visual acuity was nearly normal. These observations suggest that nystagmus imposes a visual deficit beyond that related to foveal hypoplasia alone.
Subject(s)
Albinism/genetics , Adolescent , Adult , Aged , Albinism/classification , Child, Preschool , Evoked Potentials, Visual , Eye Color/genetics , Female , Fundus Oculi , Gene Expression , Hair Cells, Auditory/enzymology , Hair Color/genetics , Heterozygote , Humans , Male , Middle Aged , Monophenol Monooxygenase/metabolism , Pedigree , Retinitis Pigmentosa/genetics , Skin Pigmentation/genetics , Visual AcuityABSTRACT
Twenty two patients with primary congenital lid retraction affecting either the upper or lower eyelids or both are presented. The clinical features and management are discussed in the hope that recognition of this clinical entity will prevent unnecessary investigation.
Subject(s)
Eyelid Diseases/congenital , Eyelids/surgery , Adolescent , Adult , Child , Child, Preschool , Eyelid Diseases/surgery , Humans , Infant , Middle AgedABSTRACT
We reviewed the records of 23 patients with systemic myasthenia gravis and blepharoptosis. The overall prognosis for improvement of blepharoptosis in these patients was favorable when multiple modes of therapy, including anticholinesterase medication, were used. Four of five patients with disabling blepharoptosis were stable enough after three to four years of their disease to consider corrective lid surgery. Two patients underwent levator resection with good results. Patients with systemic and ocular myasthenia gravis who are refractory to systemic therapy should be considered candidates for ptosis surgery when their blepharoptosis has been stable over a three- to four-year period.
