TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.

PURPOSE: To report on two rare and one novel TULP1 pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration. METHODS: Case report. RESULTS: A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy. In both patients, a unique pattern of perivascular retinal degeneration was noted. Electroretinography was consistent with a cone-rod dystrophy. Sequence analysis identified pathogenic variants in the TULP1 gene c.1087 G > A, p.(Gly363Arg); c.1568 G > A, p.(Cys523Tyr); and c.821delA, p.(Lys274ArgfsTer36). CONCLUSION: Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.

Radiologic findings in infected and noninfected scleral buckles.

PURPOSE: To present the radiologic findings in scleral buckle infections and in the early postoperative period after scleral buckling. METHODS: Retrospective multicenter orbital computed tomography (CT) study of 14 patients and brain magnetic resonance (MR) in one patient with scleral buckle infections, some with the referring diagnosis of endophthalmitis, proliferative vitreoretinopathy, orbital cellulitis, or unilateral headache. The control population consisted of early postoperative prospective CT study of 38 consecutive patients with scleral buckle without clinical infection. RESULTS: Diffuse scleral thickening and preseptal soft tissue swelling were noted in acute scleral buckle infections. Scleral thickening decreased radiologically following prompt antibiotic therapy in five patients with acute infections. Silicone sponge had low attenuation without infection and high attenuation with infection. In chronically infected scleral buckle, the sclera was thickened around the buckle, with scleral melt under the buckle. MR showed increased signal intensity in the preseptal region in one patient with chronic fungal infection. In the controls, two had thickening of the sclera without soft tissue swelling. CONCLUSIONS: CT or MR can assist in the early diagnosis and management of scleral buckle infections.

Long-term follow-up in Bietti crystalline dystrophy.

PURPOSE: To present a long-term follow-up of Bietti crystalline dystrophy. METHODS: Two brothers are presented including the clinical findings, fluorescein angiography, electrophysiology (electroretinography [ERG], electrooculography [EOG], adaptometry), optical coherence tomography (OCT), and transmission electron microscopy of bulbar conjunctiva and peripheral blood lymphocytes. The clinical findings were documented over a period of 25 years in one brother and 5 years in the other. RESULTS: The most striking features were deposits in the retina that were formed de novo with old ones replaced by choroidal atrophy in advanced stage of the disease. The light rise (EOG), rod- and cone-driven responses (ERG), and visual fields were affected progressively during the course. These changes of the retinal pigment epithelium and choriocapillaris were observed in the second decade and worsened gradually. OCT demonstrated preferential crystal accumulation in the inner retina. Cytoplasmic lipid crystalline inclusions were found in lymphocytes and conjunctival fibroblasts by transmission electron microscopy. CONCLUSIONS: Bietti crystalline retinopathy is a progressive retinal disease characterized by retinal crystals gradually replaced by atrophy of the retinal pigment epithelium and gradual constriction of visual fields.

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

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.

Ocular sequelae of pneumatic drills.

PURPOSE: To determine the ocular sequelae of rock-drilling. METHODS: Nineteen rock-drillers and 20 age-, sex- and race-matched control subjects underwent ocular examination in a prospective manner. RESULTS: Subepithelial corneal opacities were found in 12 drillers (63%) and none of the controls; pigmented trabecular meshwork was noted in 13 drillers (68%) and 1 control (5%); low-tension glaucoma was diagnosed in 1 driller (5%); vitreous liquefaction was present in 17 of 17 drillers (100%) examined by a retina specialist and 9 of 20 controls (45%). CONCLUSIONS: The sequelae of drilling include corneal scars from projectile pieces of drilled stone as well as vibration-induced pigment deposition in the trabecular meshwork and vitreous liquefaction. Wearing of safety glasses is recommended.

Ethmoid sinus osteoma presenting as epiphora and orbital cellulitis: case report and literature review.

Paranasal sinus osteoma is a slow-growing, benign, encapsulated bony tumor that may be commonly asymptomatic, being detected incidentally in 1% of plain sinus radiographs or in 3% of sinus computerized tomographic scans. In a patient presenting with orbital cellulitis and epiphora, computed tomography disclosed a large osteoma of the ethmoid sinus. Excision of the osteoma allowed recovery of vision, return of extraocular muscle function, and resolution of choroidal folds. Proptosis, diplopia, and visual loss are other frequent presenting signs of paranasal osteomas. Epidemiology, diagnosis, treatment, and pathologic findings in paranasal sinus osteoma are reviewed.