Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).

A congenital dyserythropoietic anaemia (CDA) was recognised in a French Caucasian male patient. Blood smears showed a pronounced aniso-poikilocytosis. Bone marrow light microscopy showed signs of dyserythropoesis, but no internuclear chromatin bridges. Electron microscopy disclosed erythroblast nuclei with the Swiss cheese aspect and the presence of cytoplasmic organelles, assessing the diagnosis of CDA I. The presence of internuclear chromatin bridges may thus be missing in CDA I. The patient proved to be homozygous for the Arg1042Trp mutation in codanin-1 (the 'Bedouin mutation'). By the age of 25, the patient's vision started to deteriorate as a result of retinal angioid streaks and macular abnormalities. Evolution was controlled and the patient, being nearly 50 yr old now, still has a partial use of his eyes. This second case of retinal angioid streaks reported in CDA I adds to the non-haematological features likely to be associated with this condition.

[Recovery of sickle cell disease ischemic maculopathy after erythropheresis: a clinical case study]. / Maculopathie ischémique drépanocytaire résolutive après échange érythrocytaire.

The authors report a case of a young patient with a recent decrease in unilateral vision. He had homozygote sickle cell disease with multiple general complications. Fundus examination was normal apart from a mild alteration of the macular reflect in the left eye, but fluorescein angiography showed multiple arteriolar macular occlusions, explaining the decrease in vision in the left eye. After erythropheresis, vision acuity improved and fluorescein angiography showed reperfusion. This case suggests that transfusional exchange may improve acute macular ischemia secondary to sickle cell disease.

Neuronal propagation of HSV1 from the oral mucosa to the eye.

PURPOSE: To identify possible neuronal pathways leading to herpetic ocular disease after primary oral infection in mice. METHODS: The SC16 strain of herpes simplex virus (HSV)-1 (10(6) plaque-forming units) was injected into the mucocutaneous border of the left upper lip. Animals were killed 2 to 10 days postinoculation (DPI). Spread of the virus in neural structures was studied by immunochemistry. RESULTS: HSV1 first replicated at the site of inoculation and then at the superior cervical ganglion (at 2 DPI). The trigeminal ganglion and the facial nerve fibers were infected by 4 DPI. Infection of the ciliary body and iris occurred at 6 DPI, together with several brain stem nuclei belonging to the autonomic or sensory pathways. Between 8 and 10 DPI, the neural infection gradually cleared up, except for the ipsilateral sympathetic ganglion, and ipsilateral keratitis appeared in some animals. CONCLUSIONS: The pattern of viral dissemination in this mouse model suggests that infection of iris and ciliary body results from transfer of virus in the superior cervical ganglion from sympathetic neurons innervating the lip to neighboring neurons innervating the anterior uvea. Later, zosteriform spread of virus from the trigeminal system may have contributed to the clinical and histologic findings.

Adenoma of the iris pigment epithelium.

An unusual vacuolated tumor of the iris pigment epithelium was investigated. Ultrastructural study showed a great variety of pigment granules in all the cells. The cells were of both the light and the dark epithelial type, with basement membranes and junctional complexes. The vacuoles were both intracellular and extracellular.

[Solitary palpebral trichoepithelioma]. / Tricho-épithéliome solitaire palpébral.

A 65 year-old woman presented with a solitary trichoepithelioma. Histopathological diagnosis with the basal cell carcinoma are discussed.

[Disciform keratitis and Kawasaki's disease]. / Kératite disciforme et maladie de Kawasaki.

Kawasaki's disease is a mucocutaneous lymph node syndrome associated with an acute febrile illness affecting children. Ocular signs are a principal presenting feature with hyperhemic indurated limbal sparing inflammation (88 to 96%), and some mild anterior uveitis. We report a case of disciform keratitis affecting a 10 year old child. Ocular features of Kawasaki's Disease resolved completely within a few weeks.

[Cheloid nodule of the free edge of the eyelid]. / Nodule chéloïdien du bord libre de la paupière.

Clinicopathological report of a keloid nodule of the eyelid arising apparently de novo in an 80 year old woman. Histopathologic and pathogenic discussion.

[Primary conjunctival-palpebral lymphedema and Milroy disease]. / Lymphoedème primitif conjonctivo-palpébral et maladie de Milroy.

An 18-year-old girl had swelling of both upper and lower extremities due to chronic hereditary lymphoedema. She had bilateral eyelid and conjunctival lymphoedema. This is an ocular manifestation of Milroy's disease: primary and secondary forms of lymphoedema may occur and are discussed.

[Granuloma of the conjunctiva caused by synthetic fibers]. / Granulome à fibres synthétiques de la conjonctive.

A five year old girl with pseudo-tumoral lesion of the inferior right fornix underwent surgical excision. Histology of the lesion showed a granulomatous giant cell inflammation surrounding foreign material, probably related to synthetic fabric fibers.

[Achromial pityriasis versicolor of the eyelid]. / Pityriasis versicolor achromiant de la paupière.

A 40-year-old man developed a white lesion of the eye, lid with fail of the eyelashes. The lesions are caused by Pityrosporum Orbiculare, a very common commensal of hair follicules. The hyphal forms are seen among the keratin.

[Williams-Beuren syndrome: diagnosis and ocular manifestations]. / Syndrome de Williams-Beuren: diagnostic et manifestations oculaires.

A 24-year-old woman presented with a Williams-Beuren Syndrome which included a characteristic facies, cardiovascular dysfunction and neurologic troubles. Ophthalmic examination showed a stellate pattern of the iris and tortuosities of the retinal vessels. Knowledge of these ocular manifestations could help early diagnosis.

[Palpebral mycosis]. / Mycose palpébrale.

A 47-year-old man presented with a necrotic and haemorrhagic ulceration of the lower eyelid. He had a-one-year history of secondary hepatocarcinoma. The patient underwent excision biopsy of the lesion. Histological examination showed fungal spores, which could be candida albicans.

[Juvenile hemorrhagic ocular choroidopathy (author's transl)]. / La choroïdopathie maculaire hémorragique du sujet jeune ou pseudo-histoplasmose.

We observed in 13 young patients a serous or hemorrhagic paramacular detachment of one third to one half disc diameter size. In eight, we have seen also atrophic choroidal scars. In one patient the serous detachment occured at the site of a previously studied choroidal scar. Our cases resemble the presumed ocular histoplasmin choroiditis described in American literature. In our cases histoplasmosis can be excluded. Visual prognosis is dependent upon proximity of the choroidal lesion to the fovea. In most cases this prognosis is poor. The term juvenile hemorrhagic ocular choroidopathy is suggested for the disease.

[Malignant melanoma and melanosis of the conjunctiva. Limited surgical excision and cryotherapy]. / Mélanome malin et mélanose de la conjonctive. Excision chirurgicale limitée et cryoapplication.

A 92 year old woman was noted to have three black conjunctival nodules and a black-brown pigmentation of the temporal conjunctiva. Extensive diffuse intraepithelial conjunctival melanomar was developed with invasive nodules. We treated this disease by judicious excision of the invasive nodules combined with cryotherapy delivered to the surrounding flat intraepithelial areas of involvement.

[Radiation-induced maculopathies]. / Maculopathies post-radiques.

About two clinical cases with maculopathy resulting from irradiation with so low dosage as to have been previously considered harmless in most of the literature. The authors suggest that early photocoagulation laser treatment as a mean of preserving a good visual prognosis for these eyes.

[Hyperplasia and sebaceous adenoma of the caruncle and conjunctiva]. / Hyperplasie et adénome d'origine sébacée de la caroncule et de la conjonctive.

A 61-year-old man was seen with an hyperplasia of the right caruncle and a conjunctival tumor localized under the left caruncle. Excision indicated a sebaceous benign origin. The patient suffered of a sicca syndrome with chronic inflammation of the conjunctiva.

[Uncommon ophthalmological involvement in chronic atrophic polychondritis]. / Atteintes ophtalmologiques inhabituelles au cours de la polychondrite chronique atrophiante.

OBJECTIVE: Report of two uncommon ocular manifestations of relapsing polychondritis (PR). METHODS: A 53 year-old woman presented with a uveal effusion. Diagnosis of PR was made 17 years later. A case of PR in a 41 year-old man is reported. The ocular manifestation was a pseudotumor of the lacrimal gland. CONCLUSION: The relapsing polychondritis must be known by the ophthalmologists. The ocular manifestations of this uncommon disease are significative and inflammatory.

[Subconjunctival adipose hernias of the orbit]. / Hernies graisseuses sous-conjonctivales de l'orbite.

Clinical report of three cases of subconjunctival fat prolapse. Differential diagnoses are discussed. Subconjunctival orbital fat prolapse is a benign entity with a fat herniation through defective Tenon's capsule.

[The black macula of peripheral malignant melanoma of the choroid (author's transl)]. / La macula noire des mélanomes malins périphériques de la choro ide. Etude anatomo-clinique et ultrastructurale.

Five cases of macular pigmentation with peripheral choroidal melanoma are studies. The pigmentation is in relation with accumulation of macrophages under the macula. These macrophages derive from the retinal pigment epithelium over the peripheral malignant melanoma of the choroid.

[Congenital leukomas with anomalies of the lens migration (author's transl)]. / Syndrome de non disjonction du cristallin. Etude anatomo-clinique et ultrastructurale (A propos de trois cas).

Report of three cases of congenital leukomas with anomalies of the lens migration: first case is an early malformation with "Wedl" cells in the corneal stroma; second case is a Peters' anomaly with ectopic and atrophic lens; third case, with a six years follow up after birthday, shows corneal opacification and regression of the lens. Ultrastructural study of these two last cases.