Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance

Abstract

We report four members of a Lebanese Druze family with the syndrome of lens dislocation, spontaneous filtering blebs, anterior segment abnormalities, and a distinctive facial appearance. The constellation of clinical abnormalities in these patients is not suggestive of the Marfan syndrome or other connective tissue disorders associated with ectopia lentis. We previously described this syndrome in another presumably unrelated and highly inbred Druze family from the mountains of Lebanon. We postulated autosomal recessive inheritance in a pseudo-dominant pedigree. A few isolated reports of similar cases are scattered in the world literature. We now confirm that this is a distinct autosomal recessive syndrome whose gene mutation is enriched in the Lebanese Druze community.

Anterior Axial Lens Subluxation, Progressive Myopia, and Angle-Closure Glaucoma: Recognition and Treatment of Atypical Presentation of Ectopia Lentis

“…7,8 While these patients also had myopia with normal axial length, ectopia lentis, and glaucoma, they differed significantly from those in our series as they had regions of iridocorneal adhesions, scleral thinning, and spontaneous filtering blebs. These findings were absent in our group.…”

“…[1][2][3][4][5][6][7][8][9][10][11] It can occur as an isolated abnormality, secondary to ocular trauma or syphilis, or with an intraocular tumor such as ciliary body medulloepithelioma.…”

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.…”

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

“…Systemic work-up of all patients was negative for evidence of diseases known to be associated with dislocated lenses. Furthermore, Traboulsi and colleagues [7], subsequently reported 4 members of a Lebanese Druze family with the syndrome of lens dislocation, spontaneous filtering blebs, scleral thinning, anterior segment abnormalities and a distinctive facial appearance not compatible with Marfan syndrome (negative echocardiogram), but with autosomal recessive inheritance. The absence of scleral thinning in the current case may relate to the short eye status hence a thickened sclera.…”

“…Most conjunctival blebs follow episodes of scleritis [1], accidental penetrating injury or ocular surgical procedures (cataract surgery, scleral fixated intraocular lens implantation, scleral tunnel lensectomy, and cyclophotocoagulation). Spontaneous filtering blebs are rare [2] and have been observed with few systemic disorders (scleroderma [3]), ocular abnormalities (Terrien's marginal degeneration [4] and Axenfeld syndrome [5]), or with systemic conditions, such as familial craniofacial dysmorphism with spontaneous bleb formation [6, 7] known in Lebanon as Traboulsi syndrome. We present the anterior segment imaging and treatment in a case that provides new insights into the pathophysiology of Traboulsi syndrome.…”