De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Analysis of Macular Vascularization Using Optical Coherence Tomography Angiography in Patients with Obstructive Sleep Apnea Syndrome: A Prospective Clinical Study.

Given the conflicting data available in the literature, this study aimed to investigate the impact of obstructive sleep apnea syndrome (OSAS) on the macular vascular density (VD) and perfusion density (PD). Based on the obstructive apnea-hypopnea index (OAHI), 61 prospectively recruited patients were assigned to either a control group ( = 12; OAHI < 5/h) or an OSAS group ( = 49; OAHI ≥ 5/h). The macular VD and PD of the superficial and deep capillary plexuses (SCP and DCP, respectively) were measured in the parafoveolar and perifoveolar areas using Zeiss PLEX Elite 9000 (6 × 6 mm).

Necrotising retinopathy-like lesions as a manifestation of ocular sarcoidosis.

Background: A 56-year-old Caucasian man presented with a 2-weeks history of decreased vision in the right eye. Vitritis, papillitis, cystoid macular oedema and inferior diffuse retinal infiltration were noticed. Extensive blood work-up, anterior chamber paracentesis with polymerase chain reaction (PCR) and Goldmann-Witmer coefficient, tuberculin skin test (PPD-test), fluorodeoxyglucose Positron Emission Tomography CT scan (FDG-PET/CT), lymph node biopsy and pars plana vitrectomy were performed.

Long-term results of low-fluence photodynamic therapy for chronic central serous chorioretinopathy.

Purpose: To evaluate long-term results of low-fluence photodynamic therapy (PDT) with verteporfin in the treatment of chronic central serous chorioretinopathy (CCSC).

Methods: Retrospective medical record review of 38 eyes (34 patients) who received low-fluence PDT for the treatment of CCSC. Visual acuity (VA), fundus biomicroscopy, fluorescein angiography (FA), indocyanine green angiography (ICG) and optical coherence tomography (OCT) were analyzed.

[Age-related macular degeneration].

Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in industrialized countries in individuals over 65 years of age. It is characterized by a progressive degenerative disorder of the macula, resulting in a loss of the central vision. There are two forms of AMD, the atrophic and the exudative form.

Spectral domain optical coherence tomography findings in early deferoxamine maculopathy: report of two cases.

Purpose: To describe spectral domain optical coherence tomography features in two cases of early deferoxamine induced retinal toxicity.

Methods: Two patients complained of sudden bilateral visual loss and dyschromatopsia. Both suffered from acute myelocytic leukemia with severe aplastic anemia and were treated with intravenous deferoxamine for 1 month.

Fundus autofluorescence in a case of occult macular dystrophy.

Purpose: To document for the first time intrinsic retinal pigment epithelium (RPE) fluorescence in occult macular dystrophy (OMD). This entity is characterized by a central cone dysfunction leading to a decline of visual acuity without visible fundus and fluorescein angiography abnormalities. A great variability in clinical findings and in the pattern of inheritance have been reported suggesting probably several etiologies of which some are well known but seen too early to detect significant changes.

[Central serous corticoid and chorioretinopathy].

Central serous chorioretinopathy (CSC) is a relatively frequent ocular disorder. Its pathophysiology remains however unclear. This disease typically affects young men with type A behaviour within a context of stressful events.

[Crystalline retinopathy].

Crystalline retinopathy is characterized by intraretinal crystalline deposits that, according to their etiology, can be localized in the macular area or, indeed, be found in the entire retina. These deposits can be associated or not to visual loss and electrophysiological perturbations. Among the toxic drugs leading to this retinopathy are tamoxifen, canthaxanthine, methoxyflurane, talc and nitrofurantoin.

Diffuse unilateral subacute neuroretinitis in Africa.

Purpose: Diffuse unilateral subacute neuroretinitis (DUSN) is well known in endemic areas of the southeastern United States, South America, and the northern Midwestern United States. Two different categories of nematodes, according to their length, are related to endemic areas. We report the first case of DUSN caused by a small nematode in Africa.

[Rosary-like abnormality of retinal veins:report of a case].

Inherited retinal venous beading is a rare autosomal dominant disorder with variable expressivity. It is characterized by irregular, segmented beading of the retinal veins. Some patients have arteriolar tortuosity.

Long term follow-up of birdshot chorioretinopathy.

Background: To report the long term follow-up of a case of Birdshot Chorioretinopathy treated with steroids and cyclosporine during three years and followed for twenty years.

Methods: The patient was monitored with Snellen visual acuity, slit lamp examination, perimetry, colour vision test, fluorescein angiography, electroretinogram (ERG) and electrooculogram (EOG).

Results: The retinal alterations progressed despite minimization of the intraocular inflammation.

Macular CMV retinitis: a case report.

Purpose: Cytomegalovirus (CMV) retinitis is the most common ocular opportunistic infection associated with AIDS. It usually affects the peripheral retina, sparing the macula. We describe an atypical CMV retinitis exclusively confined to the macula.

[Diabetic retinopathy: clinical features and new therapeutic findings].

Diabetic retinopathy remains today a leading cause of blindness. Dramatic progress during the past three decades led to the classification of diabetic retinopathy, to provide guidelines of screening and follow-up, to determine risk factors of progression of retinopathy and to propose treatment strategies. This paper reviews clinical and therapeutical knowledge about this topic.

[The ophthalmology department].

The main clinical activities developed during the first 25 year of the department are described. Topics of fundamental and also clinical research are briefly reviewed.

Polypoidal choroidal vasculopathy in Caucasians.

Purpose: To study the prevalence of polypoidal choroidal vasculopathy (PCV) in Caucasian patients with occult choroidal neovascularization (CNV); to study the clinical spectrum of PCV in Caucasians and the outcome after laser photocoagulation of such lesions.

Methods: (1) A consecutive series of 374 eyes of Caucasian patients at least 58 years old, presenting occult CNV, presumed to have age-related macular degeneration (AMD) on fluorescein angiography (FA) were further characterized by indocyanine green angiography (ICGA) to determine the frequency of PCV. (2) The funduscopic, FA and ICGA findings in a cohort of 36 Caucasian patients with PCV were analyzed.

[Vitrectomy for diabetic macular edema associated with hyaloid posterior traction].

The vitreomacular relationship has been demonstrated to play a role in the physiopathology of the diabetic macular edema. We review the functional and anatomic results of vitrectomy performed on four eyes of three patients with diabetic cystoid macular edema unresolved by photocoagulation. The preoperative visual acuity was "finger counting" at one meter to 1/20.

[Surgery for macular hole without positioning].

Although the macular hole surgery with gas tamponade obtains good results, the face-down positioning for minimum 5 days remains constraining and is often a cause of refusal or abstention concerning the operation. We describe 7 patients who underwent the macular hole surgery by pars plana vitrectomy with internal limiting membrane peeling and fluid-silicone exchange without position restrictions. The silicone oil has been removed 2 to 3 months later.

[Placoid pigment epitheliopathy and cerebral vasculitis: a clinical case].

We report the case of a 21 year old man who has severe headache and blurred vision since 2 weeks. Ophthalmologic examination discloses typical lesions of acute posterior multifocal placoid pigment epitheliopathy and an homonymous right inferior quadrantanopsia. An inflammatory syndrome and a cerebrospinal fluid lymphocytosis are found.

[Primary herpetic infection after transfixing keratoplasty].

Purpose: To describe a case of herpes simplex virus primary infection after a corneal transplantation and to analyse different possible ways by which the infection could have been transmitted.

Methods: A corneal transplanted patient for a Fuchs dystrophy complains 10 days postoperatively of a flu-like syndrome with keratouveitis. Donor and recipient viral serologies and a polymerase chain reaction analysis of aqueous humor were performed.

Histochemical localization of hyaluronic acid in vitreous during embryonic development.

Purpose: To determine the chronology of the appearance and localization of hyaluronic acid (HA) in mouse vitreous during the embryonic and early postnatal stages of development and in human vitreous during early embryonic development.

Methods: A histochemical method using the specific affinity for HA of a bovine cartilage proteoglycan was used on mouse eyes at embryonic (11 to 18 days) and early postnatal (8 and 18 days) stages. The same technique was applied to human embryonic eyes of 6, 8, 9, and 10 weeks.

Overlap of sarcoidosis and rosacea.

Numerous descriptions have been applied to rosacea-like eruptions of the face, some of them remaining of questionable nosologic significance. A case of rosacea-like syndrome with lacrimal, ocular and salivary involvement is described. The differential diagnosis and therapeutic response of this unusual association are discussed.

[Sympathetic ophthalmia versus Harada disease].

An algerian woman presents with a panuveitis of the right eye. Main features of this uveitis are exudative retinal detachments. That happened several months after a corneal ulcer of unknown aetiology on the left eye.