Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome.

PURPOSE: To report visual and intraocular pressure (IOP) outcomes of 4 eyes in 2 patients with Weill Marchesani Syndrome having ocular fearures of spherophakia and secondary glaucoma who underwent fibrin glue assisted intrascleral fixation of intraocular lens (IOL). METHODS: Detailed anterior and posterior segment evaluation assessing best corrected visual acuity (BCVA), IOP, central corneal thickness was done in all. Lensectomy, vitrectomy with glued Intrascleral fixation of 3 piece intraocular lens was done. Post operative BCVA and IOP were assessed. RESULTS: Visual acuity and IOP control improved post-operatively. CONCLUSIONS: Glued IOL implantation is an effective method to visually rehabilitate and control glaucoma in patients with Weill Marchesani Syndrome.

Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features.

The authors describe a case of acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome (WMS) and histopathologic features of his lens. A 37-year-old male patient visited our clinic for ocular pain with elevated intraocular pressure (19/57 mmHg). The slit-lamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated microspherophakia with corneolenticular contact in the left eye. The physical examination showed brachydactyly and relatively short stature. To control the IOP and to improve visual acuity, lens extraction, anterior vitrectomy, and scleral-sutured IOL implantation surgery were performed. To the best of our knowledge, this is the first histopathologic report of bilateral lens in a Korean patient with WMS. The pathologic specimens showed epithelial cell changes, hyaloid degeneration, and subcapsular cortical fiber changes. The authors attributed these changes to physical and mechanical factors because the lens is highly mobile and often comes in contact with the iris.

A new combined surgical approach in a patient with microspherophakia and developmental iridocorneal angle anomaly.

BACKROUND: We describe a patient with microspherophakia due to Weill-Marchesani syndrome accompanied by developmental angle anomaly who was successfully treated with a surgery of combined PPL and goniotomy. CASE: We report ocular findings of a 1-year-old girl who was diagnosed with Weill-Marchesani syndrome with a positive family history of glaucoma in her cousins and glaucoma with anterior segment dysgenesis in her older brother. Anterior segment examination revealed clear corneas with 13 mm horizontal diameter in the right and 12.5 mm in the left and very shallow anterior chambers centrally and peripherally in both eyes. Although axial lengths were 18.9 mm in the right and 19.1 mm in the left eye, cycloplegic refractive errors were -7.75 DS (-2.75 at 1800) in the right eye and -8.50 DS (-2,75 at 1800) in the left eye. Intraocular pressures were 34 mmHg in the right and 38 mmHg in the left eye. OBSERVATION: Following pars plana lensectomy, gonioscopy revealed developmental iridocorneal angle anomaly and goniotomy was performed at the same session. During 3 years of follow-up, the patient experienced no complications. IOP was 12 mmHg without medication in the last visit; cup-to-disc ratio and corneal diameters were stable. CONCLUSION: The coexistent microspherophakia and developmental iridocorneal angle anomaly can be successfully treated with combined pars plana lensectomy and goniotomy.

Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.

BACKGROUND: To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. CASE PRESENTATION: A patient presented with advanced glaucoma with an intraocular pressure of 49 mmHg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure. Surprisingly, slit lamp examination through the dilated pupil revealed a dislocated microspherophakic lens almost touching the corneal endothelium. A microspherophakic lens was confirmed by anterior segment optical coherence tomography. Weill-Marchesani syndrome was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and brachydactyly. Corneal endothelial microscopy showed severe corneal endothelial dysfunction, and lens extraction and intraocular lens implantation were subsequently performed to prevent further endothelial damage. At the 1-year follow-up visit, the patient had well-controlled intraocular pressure, transparent cornea, and normal anterior chamber depth, while the intraocular lens remained correctly in place. CONCLUSIONS: Weill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Advanced glaucoma in Weill-Marchesani syndrome should be treated with combined glaucoma surgery and lens extraction.

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, AD and GD, characterized by short stature, brachydactyly, reduced joint mobility, and characteristic facies, result from heterozygous missense mutations occurring in exons 41 and 42 of FBN1; missense mutations in these exons have not been reported to cause MFS or other syndromes. Here we report on probands with MFS and WMS who have heterozygous FBN1 missense mutations in exons 41 and 42, respectively. The proband with WMS has ectopia lentis, short stature, thickened pinnae, tight skin, striae atrophicae, reduced extension of the elbows, contractures of the fingers and toes, and brachydactyly and has a missense mutation in exon 42 of FBN1 (c.5242T>C; p.C1748R). He also experienced a previously unreported complication of WMS, an acute thoracic aortic dissection. The second proband displays classic characteristics of MFS, including ectopia lentis, skeletal features, and aortic root dilatation, and has a missense mutation in exon 41 of FBN1 (c.5084G>A; p.C1695Y). These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis. Further studies are necessary to elucidate the factors responsible for the different phenotypes associated with missense mutations in these exons of FBN1.

Weill- Marchesani syndrome: a rare case report.

OBJECTIVE: To describe the presenting features of Weill-Marchesani syndrome CASE: A 22-year-old man presented with high myopia and progressive visual disturbance. He was of short stature and had brachydactyly. His initial Snellen best corrected visual acuity (BCVA) was 6/24 in his right eye and 6/12 in his left eye. Slit lamp examination revealed a sub-luxated micro-spherophakic lens. The patient was diagnosed with Weill-Marchesani syndrome. CONCLUSION: Weill-Marchesani syndrome can present wwith progressive myopia in a person of short stature and brachydactyly.

Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis.

We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.

Síndrome de Grebe. A propósito de um caso clínico / Síndrome de Grebe. A propósito de un caso clínico / Grebe síndrome. Case report

Os autores apresentam um caso clínico de Síndrome de Grebe, urna doenca rara, autossómica recessiva, caracterizada por encurtamento e dismofogenese severos dos membros e efectuara urna breve revisáo bibliográfica sobre esta patología (AU)

Los autores presentan un caso clínico de síndrome de Grebe, una patología rara, autosómica recesiva, caracterizada por acortamiento y dismorfogénesis severos de los miembros y efectúan una breve revisión bibliográfica sobre esta patología (AU)

The authors report a case of Grebe syndrome, a rare, autosomal recessive disorder, characterized by severe limb shortening and dysmorphogenesis, and make a brief bibliographic review about this disease (AU