Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

OBJECTIVES: To identify suspected RDS mutations in families in which different people have been identified with either generalised retinal dystrophy or macular dystrophy. METHODS: Two families with a retinal dystrophy were extensively phenotyped and blood was taken for mutation analysis of the RDS (all) and ROM1 (retinitis pigmentosa patients only) genes. RESULTS: A novel p.Trp94X mutation in RDS was found in all three affected members of a two-generation family that was associated with retinitis pigmentosa in the son, pattern dystrophy in the daughter and fundus flavimaculatus in the mother. In the second family, the proband with retinitis pigmentosa carried a p.Arg220Trp mutation. The mother, who was unavailable for mutation screening, had adult vitelliform macular dystrophy. No ROM1 mutations were found in those with retinitis pigmentosa in either family. CONCLUSION: Mutations in RDS can be associated with an intrafamilial variation in retinal disease. The phenotypes range from Stargardt-like macular dystrophy to classic retinitis pigmentosa. CLINICAL RELEVANCE: Intrafamilial phenotypic variation may be due to the presence of environmental or genetic modifying factors. The presence of a modifying-sequence change in the coding region of ROM1 for two people with retinitis pigmentosa from two families with intrafamilial variation in RDS mutation phenotype has been excluded in this study.

Two cases of acute macular neuroretinopathy.

PURPOSE: To report chorioretinal vasoconstriction as a potential pathogenic mechanism in acute macular neuroretinopathy (AMNR). To describe a time lag between the onset of functional deficits and that of fundoscopically visible lesions and illustrate the superior value of infrared (IR) compared to red-free or white light imaging in AMNR. METHODS: Two young female patients (30 and 19 years old) with AMNR are described. Both underwent detailed clinical examination with additional imaging using IR, blue, and red-free light. Functional evaluation with pattern and multifocal electroretinography, Goldmann manual, and automated Humphrey visual fields (VFs) was also performed. RESULTS: The first patient was diagnosed with AMNR after a caesarian section during and after which she received treatment with vasoconstrictive drugs. She was followed up for 28 months, after which time she still suffered from bilateral U-shaped paracentral scotomata associated with macular lesions. The second patient complained of central scotomata prior to the onset of any visible fundoscopic lesions, following a bout of flu. VFs confirmed a central scotoma and pattern electroretinography was consistent with loss of macular function. Bilateral petaloid lesions became visible after 3 days when function began to improve. In both patients IR imaging was superior to standard red-free and white light in identifying macular lesions. CONCLUSIONS: Vasoconstriction in the chorioretina may be pathogenic in AMNR. Functional complaints precede fundus lesions in AMNR. And, IR light is superior to red-free or white light imaging in detecting typical fundus lesions in AMNR both early and late in the course of the disease.

Photodynamic therapy with verteporfin in Belgian patients with subfoveal choroidal neovascularization secondary to age-related macular degeneration.

This is a retrospective, uncontrolled study of 55 patients (61 eyes) treated between January 2002 and January 2004 with Photodynamic Therapy with Verteporfin for subfoveal choroidal neovascularization (CNV) secondary to age-related macular degeneration. The eyes were divided into three groups: predominantly classic CNV (21 eyes), minimally classic CNV (7) and occult with no classic CNV (4 eyes). For 31 patients (32 eyes) the follow-up period was at least one year. The following parameters were studied: visual acuity, progression of the CNV, and activity of the CNV expressed as leakage on fluorescein angiography and edema on OCT. In the group of predominantly classic CNV at 12 month the treatment resulted in an inactive lesion in 43% of the eyes, however in 48% the visual acuity had decreased. For the group of minimally classic CNV, regression of activity was noted in 71% but vision further decreased in 57%. In the group of occult with no classic CNV one eye developed classic CNV, whereas the lesion regressed on 3 eyes. Two of the 4 eyes lost vision. These results suggest that although PDT is capable of stabilizing the lesion, further visual loss is to be expected in a large number of patients.

Iatrogenic ocular vascular occlusions: case reports.

Report of two patients with severe loss of visual acuity after surgery in the head and neck area. Ophthalmic examination and imaging studies demonstrate an occlusion of the ophthalmic and central retinal arteries. In both cases, the underlying physiopathology is the embolisation by an intra-operatively injected substance. Embolisation is thought to occur via anastomosing branches between the external and internal carotid arteries. These cases demonstrate that surgery in head and neck area can result in unexpected and devastating ocular complications.

Myopia: more than a refractive error--LASIK and retinal dystrophies.

Three patients who had undergone laser in situ keratomileusis (LASIK) correction for myopia were first seen because of suboptimal visual acuity (VA) and night blindness and/or photophobia. After a comprehensive examination including psychophysical and electrophysiological tests, two of the three patients were shown to suffer from a progressive conerod dystrophy. The third patient had retinitis pigmentosa. These cases illustrate the need for in depth preoperative evaluation in myopic patients about to undergo LASIK when signs or problems of night blindness and/or photophobia are present.

The adverse effects of corticosteroids in central serous chorioretinopathy.

The purpose of this paper is to report on the possible deleterious effect of corticosteroids in central serous chorioretinopathy (CSCR). We will describe three patients in whom CSCR was induced or aggravated by corticosteroids. Despite multiple reports describing the onset of CSCR or aggravation of existing lesions with corticosteroids, they are still used by some ophthalmologists for the treatment of CSCR. Corticosteroids are also widely used for the treatment of a variety of diseases. Ophthalmologists should be aware that corticosteroids independently of the way of administration may cause this type of complication.

Optical coherence tomography of adult-onset vitelliform dystrophy.

PURPOSE: To report the cross-sectional structure of the retina and choroid in eyes with adult-onset vitelliform macular dystrophy as obtained by optical coherence tomography (OCT). METHODS: Seven patients with adult-onset vitelliform macular dystrophy and one patient with Best disease were examined by fundoscopy, fluorescein and indocyanine green angiography and OCT. Three patients underwent also electro-oculography. RESULTS: 1. Seven cases with adult-onset vitelliform macular dystrophy showed a well-circumscribed elevation of a highly reflective band, corresponding to the retinal pigment epithelium 2. In these 7 patients, the space below this band was inhomogeneous and moderately reflective. 3. Four cases out of 7 had a well defined posterior boundary. 4. The patient with Best disease disclosed a different aspect on OCT, although the contour of the lesion was similar to the others. CONCLUSION: Optical coherence tomography disclosed the structure of the vitelliform lesion in vivo and could be helpful for its pathological interpretation.

Alport syndrome and conjunctival telangiectasia.

We report a patient with ocular abnormalities due to Alport syndrome. Considerable improvement of visual acuity was obtained following ocular lens extraction with foldable lens implantation in the right eye to compensate the effect of the lenticonus anterior. The presence of conjunctival telangiectasia is a new clinical finding in a patient with Alport syndrome.

Long-term follow-up of central serous chorioretinopathy (CSCR).

We studied retrospectively the clinical files of 6 patients (11 eyes), who were diagnosed as CSCR between 1968 and 1986. They were all males, aged from 28 tot 46. The initial diagnosis of CSCR was based on the clinical symptoms and ophthalmic findings. It was supported by fluorescein angiography and later also by ICG angiography. Eight eyes have been treated by laser. After a follow-up of at least 15 years: 2 of the treated eyes and one untreated eye developed subretinal neovascularization; 6 of the treated eyes and one untreated eye progressed to diffuse pigment epitheliopathy; Final visual acuity was less than 2/10 in 6 eyes.

Three-dimensional posterior segment ultrasonography: clinical experience.

PURPOSE: To introduce a commercially available three-dimensional ultrasonography unit into everyday clinical practice and to evaluate the qualitative and quantitative information of the acquired images and to clarify the indications for 3-D echography. MATERIALS AND METHODS: 3-D scanning was performed on 59 referred patients with indications for conventional B/A-scan. On 7 patients with an intraocular mass with well-delineated borders 10 repeated volume measurements were carried out. RESULTS: The duration of the ultrasound examination was extended with 8-10 min. 3-D echography offered images of unique perspectives, not previously available with conventional B-scan. The digital technology allowed easy (re)evaluation and follow-up. The coefficient of variation of the repeated volume measurements was less than 5% for all the patients. The standard deviations ranged from 2.22 to 4.75 mm3. CONCLUSIONS: At its current level of technological development 3-D posterior segment ultrasonogaphy left the status of an entirely research laboratory tool and entered the clinical practice. Nevertheless 3-D imaging is neither a rival nor a substitute of conventional B-scan since it is static and needs time intervals for reconstruction. However 3-D ultrasonography is a useful clinical supplement to conventional B/A echography in departments to which a substantial number of complicated cases (esp. intraocular tumours) is referred. It enables volume measurements with good intraobserver reproducibility and is excellent for teaching and training purposes of ophthalmology residents.

Features of age-related macular degeneration on optical coherence tomography.

PURPOSE: To describe Optical Coherence Tomographic (OCT) findings in age-related macular lesions. PATIENTS AND METHODS: We selected 6 patients with characteristic features of age-related macular disease on OCT, 4 of whom presented with Choroidal New Vessels (CNV). OCT is analogous to ultrasound, except that light is used instead of sound. The reflected light is analysed with the technique of low-coherence interferometry. RESULTS: Classic CNV present with well-defined boundaries on OCT, whereas occult CNV can present with well- or poorly defined boundaries. Findings in Chronic Central Serous Chorioretinopathy (CSCR) and Adult Onset Vitelliform Dystrophy (AOVD) need angiographic correlation when compared to findings in CNV. CONCLUSION: OCT cannot replace conventional diagnostic techniques in exsudative Age-related Macular Degeneration. Although it accurately depicts associated changes and especially the associated serous detachment in macular disease, the imaging of neovascular membranes faces limited penetration and resolution. The interpretation of the tomograms requires further clinico-histological correlation.

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

PURPOSE: To report the clinical and electrophysiological findings in a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy. METHODS: Sixteen members of a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy were examined clinically, including measurement of the corneal diameter. In 14 persons, Goldmann perimetry, axial length determination and electro-oculography were carried out. Electroretinography, according to ISCEV standards, was performed in 11 of 12 affected persons. RESULTS: Characteristic annular peripheral pigmentary changes were present in all affected members, as well as chorioretinal atrophy varying from a tigroid aspect to marked atrophy. Four patients presented a microcornea and shallow anterior chamber without microphthalmia. The visual fields appeared to narrow with ageing. The electro-oculography was pathological in the affected patients and normal in the unaffected. The electroretinographic amplitude responses tended to worsen with age, with maintenance of near normal latencies. CONCLUSION: The clinical presentation of autosomal dominant vitreoretinopathy is variable. Electrooculography seems to be a discriminative test. The condition may be associated with anterior segment abnormalities other than presenile cataract, such as microcornea, shallow anterior chamber and angle closure glaucoma.

[Intra-ocular non-Hodgkin's lymphoma. Diagnostic aspects]. / Le lymphome intra-oculaire non-Hodgkinien. Aspects diagnostiques.

Intraocular non-Hodgkin lymphoma often masquerades a chronic uveitis, which does however not respond to local and/or systemic immunosuppressive treatment. The anterior segment signs are usually discrete, although a hypopion may appear during evolution. The vitreous is often markedly involved. The chorioretinal lesions are variable in aspect. Subretinal infiltrates or solid retinal pigment epithelial detachments are the most characteristic fundus signs of the disease. Other fundus signs may be present, such as retinal vascular occlusions, perivasculitis, macular oedema, optic disc oedema or ischaemic optic neuropathy. The diagnosis is based on histological or cytological examination of anterior chamber material in case of hypopion, or more frequently from vitrectomy specimens or from direct biopsy of suspected fundus lesions. Polymerase chain reaction and flow cytometry can be extremely helpful in the diagnosis of intraocular lymphoma when the cytology is not conclusive.

Bilateral corneal melting in a patient with paraneoplastic pemphigus.

An 80-year-old man, with a solid abdominal tumor and multiple skin lesions, was admitted to the hospital because of a perforated right cornea and an impending perforation of the left. The clinical, histological, immunohistological and immunoprecipitation findings of the skin lesions were consistent with Anhalt's criteria for paraneoplastic pemphigus (PNP). The underlying malignancy proved to be an incurable peripheral neuronal shaft tumor. Both conjunctivae appeared normal. The right eye revealed a flat anterior chamber, due to a spontaneous, central corneal perforation. The central part of the left cornea had severely thinned, resulting in a descemetocele, which eventually perforated. Multiple surgical interventions were needed to restore the anterior chamber in both eyes. Although a causative association between PNP and corneal perforation could not be demonstrated, we think that corneal melting should be added to the list of ocular complications in patients with PNP.

Small infarctions of cochlear, retinal and encephalic tissue (SICRET syndrome).

PURPOSE: To report 3 new cases suggestive of SICRET syndrome. METHODS: Case reports. Three patients underwent clinical, laboratory and neuroradiological examination for recurrent retinal branch artery occlusions, encephalopathy and/or hearing loss. RESULTS: In all 3 patients the laboratory tests were unremarkable for infectious or systemic disease. All 3 cases showed retinal artery occlusions on funduscopy and fluorescein angiography. Visual acuity impairment and visual field defects were related to the retinal artery occlusion site. Variations in the presenting sign were noted in the 3 patients. The first patient (a 32 year old man) showed a documented association of small infarctions of the brain and the retina. The retinal occlusions were bilateral and 8 recurrences were observed. In the second case (a 26 year old woman) the brain was initially involved. Fluorescein angiography showed unilateral retinal artery occlusion. Cochlear manifestations were not reported. The third case (a 35 year old woman) showed initially bilateral recurrent branch artery occlusion and hearing loss without clinical signs of encephalopathy. Three recurrences were documented. CONCLUSION: SICRET syndrome is a microangiopathy that causes infarcts in the cochlea, retina, and brain of young patients, usually women. The aetiology is unknown. Clinically some infarcts may remain asymptomatic. Bilateral sensorineural hearing loss on low frequency on audiology, recurrent bilateral retinal branch artery occlusions on fluorescein angiography and small multiple areas of signal hyperintensity in white and gray matter on Brain MRI T2-weighted images are necessary for the diagnosis. Our 3 patients did not fulfill these criteria, but their disease was suggestive of SICRET syndrome. SICRET syndrome should be included in the differential diagnosis of recurrent branch artery occlusions. The clinical course is self-limited and treatment options are not codified.

Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1.

BACKGROUND: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this association has not been definitively established yet. METHOD: We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes. RESULTS: The diagnosis of bilateral combined hamartoma of the retina and retinal pigment epithelium in our patient was performed on the basis of the ophthalmoscopic appearance of the lesions. NF-1 was diagnosed following the current international clinical criterion, supplemented by neuroimaging findings. CONCLUSION: Despite the extreme rarity of this association, we believe that it is not coincidental, as the presence of a hamartomatous retinal lesion in a patient with a systemic hamartomatous neuroectodermic disease would be, at least, rational. Thus, NF-1 must be excluded in patients with combined hamartoma of the retina and retinal pigment epithelium.

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. (3) The outcome after laser photocoagulation was studied in 14 PCV eyes with a minimum follow-up of 6 months. RESULTS: (1) Fourteen of 374 eyes (4%) presenting occult CNV in patients at least 58 years old were diagnosed as PCV by means of ICG-A. (2) A polypoidal lesion was found in the macula in 22 of 45 PCV eyes, in the peripapillary area in 16 of 45, under the temporal vascular arcade in 6 of 45 and in the midperiphery in 6 of 45. Large or soft drusen were observed in 15 of 45 eyes with PCV. (3) Regression of fundus signs without persisting polyps 6 months after laser photocoagulation was obtained in 5 of 5 treated peripapillary lesions but in only 5 of 9 treated macular or arcade lesions. CONCLUSION: Polypoidal choroidal vasculopathy is not rare in Caucasian patients presenting with occult choroidal neovascularization. The fundus abnormalities seen in such eyes overlap with the typical manifestations of AMD. Whereas the prognosis after photocoagulation of peripapillary polypoidal lesions appears to be relatively good, it is more guarded for macular or arcade lesions.

Indocyanine green angiography in Sorsby's fundus dystrophy.

PURPOSE: To report the indocyanine green angiographic findings in patients with a fundus dystrophy characterized by subretinal deposits, macular atrophic or neovascular degeneration and peripheral chorioretinal atrophy which is most likely Sorsby's fundus dystrophy. METHODS: A series of 11 clinically affected patients and 4 asymptomatic carriers, belonging to one autosomal dominant pedigree were examined with stereoscopic funduscopy, fluorescein and indocyanine green angiography. RESULTS: Subretinal deposits were found in 20 eyes of 10 patients. These deposits stained slightly on indocyanine green angiography, causing a reticular pattern. Two eyes had a disciform lesion and 3 geographic atrophy in the macula. A peripheral disciform lesion was found in 1 eye. Indocyanine green angiography identified peripapillary choroidal neovascularization in 2 eyes. Peripheral chorioretinal atrophy was found in 8 eyes of 4 patients, associated with peripheral plaques that could only be identified by indocyanine green angiography in 6 eyes of 3 patients. CONCLUSION: Indocyanine green angiography in Sorsby's fundus dystrophy may indicate the presence of homogeneously staining, well-demarcated peripheral areas of hyperfluorescence associated with chorioretinal atrophy. These plaques correspond in our opinion to choroidal neovascularization which is otherwise unsuspected.