Anatomo-Clinical Aspects of Retinoblastoma: A Series of 144 Cases.

Retinoblastoma (RB) is the most common intraocular primary malignancy for infants and young children. The tumor is bilateral in 40% of cases and unilateral in 60% of cases. The hereditary form is due to a germinal mutation in the RB1 tumor suppressor gene. In developed countries, patients treated for RB have excellent survival, but unfortunately in developing countries delays in diagnosis and lack of human and financial resources are responsible for deaths. We conducted a retrospective study of 144 cases of RB in order to evaluate the clinico-pathological aspect of RB for the national reference center of RB in Morocco. Our study highlighted the indispensable collaboration between the clinician and the pathologist. Besides the diagnostic confirmation, the anatomopathological study gives us information on histopronostic risk factors to guide the treatment.

Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

INTRODUCTION: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disorder characterized by complex orbito-palpebral anomalies. We report a rare case of BPES associated with bilateral congenital cataract. OBSERVATION: This study reports the case of a 6-month-old infant with BPES in whom a bilateral congenital cataract was diagnosed, after the parents noticed leukocoria and signs of poor vision in their child. No other ophthalmologic manifestations commonly associated with this syndrome were found. The infant underwent cataract surgery first, with lens phacoaspiration and posterior capsulotomy coupled with anterior vitrectomy and placement of a 3-piece foldable hydrophobic posterior chamber lens in the capsular bag. The surgery was a real challenge due to the orbito-palpebral anomalies that limited a small surgical space, and the placement of the IOL was a matter of discussion. DISCUSSION: Publications on the association of congenital cataract with BPES are very rare. The link between these two anomalies is difficult to establish since different genes on different chromosomes code for the two diseases. A lateral canthotomy can be considered to overcome the surgical difficulties due to the reduced working space. The surgical management of pediatric cataract varies in the literature. CONCLUSION: This case highlights the difficulty of cataract surgery in children, even more so when associated with BPES, and the challenge of improving vision in these children given the high risk of amblyopia.

Spontaneous corneal perforation complicating ocular rosacea: Case report.

INTRODUCTION: Ocular rosacea is a multifactorial disease. Its pathophysiology remains unclear. The ocular manifestations of rosacea are not specific and can range from simple blepharoconjunctivitis to sight-threatening such as corneal perforation. CASE REPORT: We report the case of a 10-year-old child who presented with a red painful right eye. Based on the clinical findings, we concluded that she had a corneal perforation on ocular rosacea. She benefited from an ipsilateral lamellar autokeratoplasty by lamellar autograft. The evolution was marked by a good healing and a good visual recovery despite a corneal scar. DISCUSSION: Ocular rosacea is a multifactorial disease, with an unclear physiopathology. Corneal involvement remains the least common, but the most challenging since serious complications can occur. Corneal perforation is the most severe. Several techniques have been reported and used in the management of corneal perforations such as conjunctival flap, amniotic membrane grafting, and the use of a corneal patch. The later, corneal autografting, remains a simple and effective technique with satisfactory anatomical results. CONCLUSION: Ocular rosacea is a pathology that is still poorly understood and of delayed diagnosis. It can lead to serious vision-threatening complications such as corneal perforation. The corneal patch is a simple, effective and efficient technique that has given good results in our case.

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Primary congenital glaucoma (PCG) is a rare and severe form of glaucoma and is usually transmitted as an autosomal-recessive disease. However, PCG is more common in certain ethnic and geographic groups where consanguineous relationships are common. The importance of this review is to inspect the mutations in the cytochrome P450 1B1 gene (CYP1B1) and to highlight the interest of the genetic study of CYP1B1 mutations. An in-depth study was carried out by the following search engines: PubMed, Scopus, clinic key and direct science for articles that have been published from 2011 until 2020. One hundred and sixty-one mutations were found in 1641 tested patients and three families, including 78 novel mutations. We identified a no significant difference in the sex ratio and the bilaterality was reported in the majority of patients. We have shown through this study that inbreeding plays an important role in the pathogenesis of PCG transmission compared to the sporadic mutations that have been found in some cases. The majority of the included studies were from ASIA (64.3%), followed by Europe (17.85%), America (10.71%) and Africa (7.14%). The first and most common mutation in our study is 182 G>A (p.Gly61Glu). It was identified in Iran, Portugal and Saudi Arabia and for the first time in Brazil and Vietnam. The greatest number of mutations in common is p.Gly61Glu. Mainly within five countries: Iran, Portugal, Saudi Arabia, Brazil and Vietnam. The first step in PCG screening should be a genetic test looking for founder and common mutation coupled with a clinical examination.

[Eyelid molluscum contagiosum: a case report]. / Molluscum contagiosum palpébral: à propos d'un cas.

Molluscums contagiosum (MC) are benign skin lesions caused by Molluscipoxvirus, primarily affecting children and young adults. They manly involve the skin and rarely the mucous membranes. Clinical diagnosis is easy, confirmed by histological examination of the lesion. However there is no consensus regarding therapy. Eyelid molluscum contagiosum is rare, posing a problem of differential diagnosis especially when it is isolated as well as a therapeutic problem given the proximity of the eyeball. We report the case of a 7-year old girl with isolated eyelid lesion. The patient underwent lesion excision. Anatomopathological examination showed molluscum contagiosum. This study aims to describe the clinical, therapeutic and evolutionary features of this rare localization of molluscum contagiosum.