[PET-scan in orbital Malt lymphoma and its value in diagnosis and management: a series of four cases]. / Diversité clinique du lymphome de Malt orbitaire et intérêt du PET-scan. A propos de quatre cas.

INTRODUCTION: The orbital location of mucosa associated lymphoid tissue (Malt) lymphoma (ML) is rare and can appear in very different forms. Biopsy is decisive for diagnosis. Although the positron emission tomography (PET) scan is rarely used in ophthalmology, it appears useful in our experience. We report four cases illustrating the diversity of the orbital localization in ML. Case 1 is a 41-year-old woman presenting unilateral corticosteroid-resistant dacryoadenitis. The PET-scan clearly fixed at the orbit. After anatomopathologic confirmation, a 36-Gy orbital radiotherapy was carried out, leading to the clinical and tomographic remission. CASE REPORTS: Case 2 is a 61-year-old patient, presenting a small cell carcinoma of the lung, initially referred for unilateral exophthalmia. MRI highlighted a bilateral orbital infiltration, with a hot spot on the PET-scan. The clinical suspicion of orbital metastasis was not confirmed: the biopsy concluded in ML. Case 3 is a 64-year-old woman, referred for unilateral and resistant conjunctival hyperemia. Clinical diagnosis was myositis of the superior rectus muscle. The PET-scan did not fix in the orbit but revealed a pleural location. The muscular biopsy concluded once again in ML. Case 4 is a 68-year-old woman who had a history of sinusal ML. Diplopia with a second orbital location, non specific in CT but fixed in PET, was found. The biopsy concluded in ML with transformation toward an aggressive lymphoma. CONCLUSION: Although the lacrimal gland location is well-known, unspecific orbital infiltration and orbital myositis are less common, which highlights the value of a non invasive exploration before biopsy. The advantages of the PET scan in orbital ML has not been sufficiently studied. In our experience, it was useful in these four cases. Orbital ML can take on different aspects that are sometimes misleading. PET is very useful in diagnosis before the biopsy, in therapeutic decisions, and in follow-up after treatment even if it does not always fix in the orbit.

[Plateau iris-like configuration resulting from numerous iridociliary cysts]. / Syndrome d'iris plateau-like secondaire à une polykystose iridociliaire.

INTRODUCTION: The clinical diagnosis of plateau iris most often remains a suspected diagnosis in absence of complementary imaging tests. We report the case of a plateau-like iris configuration resulting from numerous iridociliary cysts and the diagnostic value of ultrasound biomicroscopy (UBM). OBSERVATION: A 35-year-old Caucasian woman with a family history of PAOG presented asymptomatic high intraocular pressure (IOP) (26mmHg RE, 17mmHg LE). She had a normal deep anterior chamber, a narrow iridocorneal angle with sectoral abnormal insertion of the iris and a normal fundus. Laser peripheral iridotomy was performed. One year later, the patient presented again with elevated IOP in the right eye (25mmHg); hypotensive monotherapy was prescribed. Later she reported eye pain in the evening. Gonioscopy found an iridocorneal contact covering more than 200 degrees in the right eye, with less extensive coverage in the left eye. The hypothesis of plateau iris-like syndrome was suggested because of the failure of the iridotomy and UBM was performed. This confirmed the diagnosis of plateau iris configuration secondary to numerous ciliary body cysts. DISCUSSION: UBM provides great diagnostic assistance, superior to anterior segment OCT in the diagnosis of plateau iris syndrome, particularly in imaging the ciliary body. CONCLUSION: The numerous iridociliary cysts can imitate iris plateau syndrome, which explains aggravation over time, depending on their formation. UBM is a highly valuable tool for the diagnosis and the follow-up of this pathology.

[Scar sarcoidosis: an exceptional entity in ophthalmology]. / Scar sarcoidosis: une entité exceptionnelle en ophtalmologie.

INTRODUCTION: Scar sarcoidosis is a cutaneous demonstration of sarcoidosis arising on old cutaneous scars and generating nodular erythematous lesions. CASE REPORT: We report the case of a 55-year-old patient sent for a multinodular erythematous tumefaction, at the level of the right eyebrow arch. The pathologic exam of the surgical specimen found a noncaseating inflammatory granulomatous reaction with no caseous necrosis. The diagnosis of sarcoidosis was retained based on a number of diagnostic arguments including the thoracic scanner and bronchoscopy results. DISCUSSION: Scar sarcoidosis is a cutaneous sarcoidosis expression but exceptionally leads to discovery of this disease, which then requires a search for visceral lesions because of their frequent association. The location is essentially facial and the peak of frequency is in the 5th decade. This pathology highlights the problem of its differential diagnosis, based on biopsy, which will eliminate cutaneous metastases, lymphoma, as well as other cutaneous granulomas.

[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers]. / Nouvelle mutation du gène OPA1 responsable d'une atrophie optique dominante isolée chez deux frères.

Autosomal dominant optic atrophy, or Kjer disease, is the most frequent form of autosomal dominant optic neuropathy. We report a novel mutation of the OPA1 gene in two brothers with autosomal dominant optic atrophy and describe their clinical features. The two patients, aged 41 and 37, presented with a bilateral visual impairment that had been detected at the age of 4 in both of them. Their ophthalmoscopic examinations disclosed a bilateral optic atrophy and their Goldmann visual fields showed cecocentral scotomas. The patients thought their disease might be a Leber's hereditary optic neuropathy; however, mutations had ever been sought. When first seen by us, they wished to know whether their disorder might be transmitted to their children. They had a family history of visual impairment. We carried out mtDNA sequencing but we did not identify any primary or rare Leber's hereditary optic neuropathy mutations. On the other hand, the 30 coding exons of the OPA1 gene and the intron-exon junctions were amplified by polymerase chain reaction and sequenced. A novel mutation of the OPA1 gene was found in both brothers: a deletion of four nucleotides in intron 19, associated with anomalous splicing, demonstrating the pathogenicity of the mutation. These molecular analyses contributed to identifying a novel mutation of the OPA1 gene with a clinical phenotype of isolated optic atrophy.