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Connective Tissue Disorder

Ms. ABC is a 22-year-old female, who is currently referred for consultation by Dr. X at the connective tissue Service. She is being sent for evaluation of ocular manifestations of systemic connective tissue disorders. She denies any eye problems. Her past ocular history includes myopia with astigmatism. She wears contact lenses. She denies flashes, floaters, or curtains in either eye.

Her past medical history includes a presumed diagnosis of connective tissue disorder. She has otherwise, good health. She underwent a shoulder ligament repair for joint laxity.

She does not take any eye medications and she takes Seasonale systemically. She is allergic to penicillin.

The visual acuity today, distance with her current prescription was 20/30 on the right and 20/20 on the left eye. Over refraction on the right eye showed -0.50 sphere with acuity of 20/20 OD. She is wearing -3.75 +1.50 x 060 on the right and -2.50 +0.25 x 140, OS. Intraocular pressures are 13 OU and by applanation. Confrontation, visual fields, extraocular movement, and pupils are normal in both eyes. Gonioscopy showed normal anterior segment angle morphology in both eyes. She does have some fine iris strength crossing the angle, but the angle is otherwise open 360 degrees in both eyes.

The lids were normal in both eyes. Conjunctivae were quite, OU. Cornea were clear in both eyes. The anterior chamber is deep and quiet, OU. She has clear lenses, which are in good position, OU. Dilated fundus exam shows moderately optically clear vitreous, OU. The optic nerves are normal in size. The cup-to-disc ratios were approximately 0.4, OU. The nerve fiber layers are excellent, OU. The macula, vessels, and periphery were normal in both eyes. No evidence of peripheral retinal degeneration is present in either eye.

Ms. ABC has optically clear vitreous. She does not have any obvious risk factors for retinal detachment at present such as peripheral retinal degeneration and her anterior chamber angles are normal in both eyes.

She does have moderate myopia, however.

This combination of findings suggests and is consistent with her systemic connective tissue disorder such as a Stickler syndrome or a variant of Stickler syndrome.

I discussed with her the symptoms of retinal detachment and advised her to contact us immediately if they occur. Otherwise, I can see her in 1 to 2 years.

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