Anterior Segment Imaging and Treatment of a Case with Syndrome of Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism

Abstract

Purpose: To report the ultrasound biomicroscopy (UBM) and surgical findings in a subject with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism (Traboulsi syndrome). Methods: Case report, using a 40-MHz UBM wide-field anterior segment scan and anterior segment optical coherence tomography (OCT). Results: A 16-year-old orphan girl presented with visual loss to the level of 6/60 (20/200) bilaterally. She had a central corneal opacification with retrocorneal fibrosis. The anterior chamber was flat with a very poorly dilating pupil. The lens was central in location. Perilimbal conjunctival blebs were bilateral with an intraocular pressure of 8 mm Hg. UBM and anterior segment OCT revealed chronic apposition of the iris to the cornea with angle closure, delineation of the bleb tract and rarefaction of the zonules. The girl had abnormal facial features (a beaked nose and long face) with normal chromosomal studies, negative fluorescent in situ hybridization study for velocardiofacial syndrome and an absence of signs suggesting Marfan syndrome. Under general anesthesia, attempts at deepening the anterior chamber with sodium hyaluronate 3% led to a spontaneous dislocation of the lens into the anterior chamber, facilitating its aspiration. Deepening of the angle was found after lens removal. Retrocorneal fibrosis persisted after surgery, but the bleb height decreased. Best corrected visual acuity did not improve from the preoperative level beyond 6/60 (20/200) because of central retrocorneal fibrosis. Conclusions: Early surgical removal of the lens is necessary in this syndrome to avoid irreversible corneal and trabecular meshwork damage in chronic apposition of the iris to the cornea. UBM can help in the delineation of the bleb tract and document resolution of angle closure after surgery.

Two Cases of Spontaneous Filtering Blebs, One Idiopathic and One Associated With Terrien Marginal Degeneration

“…2,3 Formation has been observed after penetrating eye surgeries, in ocular conditions such as scleritis and Terrien marginal degeneration, in a syndromic pattern, and in association with underlying systemic conditions such as connective tissue diseases. [1][2][3][4]8 Our first case is a rare report of a unilateral spontaneous filtering bleb occurring in a healthy patient lacking syndromic malformations or inciting cause, and our second case is the only reported case of bilateral sequential filtering bleb formation associated with Terrien marginal degeneration. 3,[5][6][7] An atypical subset of patients with Terrien marginal degeneration is affected younger than the age of 30, and these patients present with recurrent episodes of inflammation, tearing, and episcleritis.…”

“…[1][2][3][4] Terrien marginal degeneration is characterized by progressive paralimbal corneal stromal thinning resulting in ectasia after a lengthy period, extending up to 30 years in some cases. 5 In atypical cases, this thinning has been known to cause a trabeculectomy-like filtering bleb.…”

Recessive Mutations inLEPREL1Underlie a Recognizable Lens Subluxation Phenotype

“…17 The rare recessive syndrome of ectopia lentis, spontaneous filtering blebs and craniofacial dysmorphism, is due to recessive ASPH mutations and thus far only been documented in the Middle East. [18][19][20][21] Children with sulfite oxidase deficiency (isolated, from recessive mutations in SUOX, or non-isolated, in the context of other deficiencies) have major neurological abnormalities early in life; while lens subluxation is often present, it is typically not a presenting feature. 22 Usually these different genetic causes of ectopia lentis are phenotypically distinct; however, rarely there can be phenotypic overlap when genes that interact with each other in the extracellular matrix are mutated.…”

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelicASPHvariation

“…One of these variants (p.Cys641Ter) was a premature termination codon and predicted loss-of-function allele, while the second (p.Arg735Gln) was a missense substitution at a critical catalytic domain residue. A different substitution at the same residue (p.Arg735Trp) was reported in homozygous form in two Lebanese individuals with FDLAB syndrome [3][4][5] .…”

“…Traboulsi syndrome, also known as FDLAB syndrome (facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs), is a rare ocular malformation syndrome associated with ectopia lentis 2,3,4,5,6 . FDLAB syndrome is caused by biallelic variants at the ASPH locus 5 , which encodes at least three unique proteins: junctin, junctate, and aspartyl/asparaginyl hydroxylase (ASPH) 7 .…”