• 2 SECTIONDefects Developmental

Weill–Marchesani Syndrome

Key Facts

•Autosomal recessive (high rate of consanguinity)

•Short stature

•Brachydactyly (short stubby fingers)

•Mental handicap uncommon

Clinical Findings

•Progressive myopia

•Microspherophakia

•Usually inferior or anterior lens subluxation

•Angle anomaly and pupillary block glaucoma

Ancillary Testing

• None

Differential Diagnosis

•Hyperlysinemia

•Sulfite oxidase deficiency

•See differential diagnoses for Marfan syndrome (p. 10)

Treatment

•Cycloplegic and mydriatic agents or iridectomy to relieve pupillary block

•Optical correction

•Lensectomy

Prognosis

• Variable

Fig. 2.14 Small lenses (microspherophakia) as in Weill– Marchesani syndrome. Spontaneous dislocation into the anterior chamber of a microspheric lens. (From Salmon J, Kanski J 2004 Glaucoma: a Colour Manual of Diagnosis and Treatment. Butterworth-Heinemann, Edinburgh.)

A

B

Fig. 2.15 Weil–Marchesani syndrome is inherited recessively and characterized by short stature and stubby fi ngers (A) and toes (B), which have stiff joints. Spherophakia, lenticular myopia of 10–20 D and lens dislocation are common. Heterozygotes may show a milder form of the disease. (From Spalton DJ, Hitchings RA, Hunter P 2005 Atlas of Clinical Ophthalmology, 3rd edn. Mosby, Edinburgh.)

Syndrome Marchesani–Weill

• 2 SECTIONDefects Developmental

Persistent Fetal Vasculature

Key Facts

•Unilateral abnormality associated with congenital cataract

•Persistence of the posterior fetal fibrovascular sheath of the lens

•Leukocoria

Clinical Findings

•Microphthalmos

•Shallow anterior chamber (lens thrust forward secondary to contracting retrolental membrane)

•Persistent pupillary membrane

•Cataract

•Ectopia lentis or ectopia lentis et pupillae

•Mittendorf dot

•Possible rupture of posterior lens capsule

•Retrolental, opaque membrane

•Elongated ciliary processes

•Iridohyaloid blood vessels

•Retinal folds or detachment

Ancillary Testing

•A- and B-scan ultrasonography

•CT scan or MRI (if poor posterior visualization and diagnosis and management cannot be determined by conventional techniques)

Differential Diagnosis

•Congenital cataract

•Retinoblastoma

•Toxocariasis

•Coats disease

•Persistent hyperplastic primary vitreous

•Retinopathy of prematurity

•Retinal astrocytoma

•Familial exudative vitreoretinopathy

•Uveitis

•Incontinentia pigmenti

Prognosis

•Visual prognosis poor, but early surgical intervention recommended to prevent phthisis and improve cosmesis

•Patient’s visual function is normally good, because persistent fetal vasculature is unilateral

Fig. 2.16 Posterior subcapsular cataract with retrolental membrane in a patient with persistent fetal vasculature.

Fig. 2.17 A posterior subcapsular cataract as well as a nuclear cataract in the same patient as in Fig. 2.12.

Vasculature Fetal Persistent