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Weill-Marchesani Syndrome.



•Known as Spherophakia-Brachymorphia syndrome.

•Rare connective tissue disorder presenting with abnormalities of the lens, secondary glaucoma, short stature, brachycephaly, joint stiffness, and cardiovascular defects.


•AUTOSOMAL RECESSIVE: Microspherophakia and cardiac anomalies. (Gene affected: ADAMTS10, ADAMTS17, LTPBP2).


•AUTOSOMAL DOMINANT: Ectopia lentis and joint related problems. (Gene affected: FBN-1).


PATHOPHYSIOLOGY:


•Decreased visual acuity occurs because of the increased refractive power of the hyper-spherical lens causing myopia.

•Impairment in extracellular matrix proteins and enzymes involved with the production of fibrillin leading to zonular weakness which allows for a highly mobile lens and can further lead to pupillary block with anterior dislocation of the lens.


OCULAR FEATURES:

•Microspherophakia (small spherical lens).

•Myopia.

•Lens subluxation.

•Secondary glaucoma.

•Increased corneal thickness.


SYSTEMIC FEATURES:

•Short stature.

•Brachydactyly (short fingers or toes).

•Joint stiffness.

•Cardiovascular abnormalities: PDA, Pulmonary stenosis, Cervical artery dissection.

•Mild intellectual disability.


RADIOGRAPHIC FEATURES:

•Shortened long tubular bones.

•Broad proximal phalanges.


MANAGEMENT:

•Regular, annual Ophthal examinations of patient as well as family members.

•Early removal of the microspherophakic lens is recommended to improve visual acuity, control IOP and prevent pupillary block and glaucoma. Glaucoma can be managed with PI and trabeculectomy.

•Avoid miotics and mydriatrics (to decrease risk of pupillary block).

•Physical therapy for joint problems.

•Regular cardiac follow up to screen for anomalies.


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