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Retinal vascular tortuosity in a patient with weill-marchesani syndrome.

Gallagher K, Salam T, Sin B, Gupta S, Zambarakji H - Case Rep Ophthalmol Med (2011)

Bottom Line: On examination, she was noted to be of short stature with brachydactyly.On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lenses.Fundoscopy revealed bilateral tortuous retinal vessels.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UK.

ABSTRACT
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic female presented with an 8-month history of bilateral blurred vision. On examination, she was noted to be of short stature with brachydactyly. On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lenses. Serum and urine homocysteine were normal and a syphilis screen was negative. A diagnosis of Weill-Marchesani syndrome was made. Fundoscopy revealed bilateral tortuous retinal vessels. We report the first illustrated case of retinal vascular tortuosity as an ocular manifestation of Weill-Marchesani syndrome.

No MeSH data available.


Related in: MedlinePlus

Retinal vascular tortuosity with normal optic discs.
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fig3: Retinal vascular tortuosity with normal optic discs.

Mentions: A 28-year-old female presented with an 8-month history of bilateral blurred vision and progressive myopia. Her parents were first cousins. She had three male siblings, all of whom were healthy with no systemic illnesses. She had no other medical history of note. There was no history of ocular trauma. On examination, she was noted to be of short stature with brachydactyly (Figure 1), broad hands and feet, and limited joint mobility. Visual acuity was 0.9log⁡⁡MAR in the right eye and 1.0log⁡⁡MAR in the left. Her most up-to-date refraction was as follows: right −9.25/−3.00 × 160, left −8.75/−4.00 × 40. She was found to be spherophakic with bilateral inferiorly subluxated lenses (Figure 2). Intraocular pressures were 17 and 18 mmHg right and left. Fundoscopy revealed bilateral tortuous retinal vessels with normal optic discs (Figure 3).


Retinal vascular tortuosity in a patient with weill-marchesani syndrome.

Gallagher K, Salam T, Sin B, Gupta S, Zambarakji H - Case Rep Ophthalmol Med (2011)

Retinal vascular tortuosity with normal optic discs.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3350144&req=5

fig3: Retinal vascular tortuosity with normal optic discs.
Mentions: A 28-year-old female presented with an 8-month history of bilateral blurred vision and progressive myopia. Her parents were first cousins. She had three male siblings, all of whom were healthy with no systemic illnesses. She had no other medical history of note. There was no history of ocular trauma. On examination, she was noted to be of short stature with brachydactyly (Figure 1), broad hands and feet, and limited joint mobility. Visual acuity was 0.9log⁡⁡MAR in the right eye and 1.0log⁡⁡MAR in the left. Her most up-to-date refraction was as follows: right −9.25/−3.00 × 160, left −8.75/−4.00 × 40. She was found to be spherophakic with bilateral inferiorly subluxated lenses (Figure 2). Intraocular pressures were 17 and 18 mmHg right and left. Fundoscopy revealed bilateral tortuous retinal vessels with normal optic discs (Figure 3).

Bottom Line: On examination, she was noted to be of short stature with brachydactyly.On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lenses.Fundoscopy revealed bilateral tortuous retinal vessels.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UK.

ABSTRACT
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic female presented with an 8-month history of bilateral blurred vision. On examination, she was noted to be of short stature with brachydactyly. On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lenses. Serum and urine homocysteine were normal and a syphilis screen was negative. A diagnosis of Weill-Marchesani syndrome was made. Fundoscopy revealed bilateral tortuous retinal vessels. We report the first illustrated case of retinal vascular tortuosity as an ocular manifestation of Weill-Marchesani syndrome.

No MeSH data available.


Related in: MedlinePlus