Biomedical subjects

K Nummelin

Publications and source records attributed to K Nummelin.

7 recordsLinked to original sources

PubMed1996

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations.

BACKGROUND: Leber hereditary optic neuropathy (LHON) is associated with primary and secondary mutations in mitochondrial DNA. Clinical studies suggest that there is a wide spectrum of clinical expression. METHODS: Fifty-three affected and 131 unaffected maternal relatives from 21 pedigrees with LHON were studied neuro-ophthalmologically and followed over a period of 14 years. Mitochondrial DNA analysis was performed on their blood specimens. RESULTS: Thirty-two affected (60%) individuals from ten families harbored the 11778 mutation and ten individuals (19%) from three families harbored the 3460 mutation. No confirmed primary mutation was detected in 11 (21%) affected individuals from eight families. The visual outcome was better in families with the 3460 mutation than in those with the 11778 mutation. Secondary mutations did not affect the penetrance or the visual outcome. Fifteen patients had a favorable outcome; seven of whom had subclinical disease, two had slowly progressive LHON with a favorable visual outcome, and six had classic LHON with spontaneous recovery. In seven patients, the onset of the disease had been in childhood. These patients had a more favorable prognosis than the adults. Results of eye examinations of asymptomatic maternal relatives showed subclinically affected individuals. CONCLUSIONS: In addition to classic LHON, the disease can manifest itself in three different atypical forms: subclinical disease, slowly progressive LHON with a favorable visual outcome, and LHON with the classic acute stage but spontaneous visual recovery. The current study suggests that the ophthalmologic findings and outcome in LHON are independent of secondary mutations.

Adolescent↗

PubMed1988

Does sporadic Leber's disease exist?

This study gives some illustrative case reports of the difficulties in the diagnosis of Leber's hereditary optic neuroretinopathy. It underlies the importance of careful family history and search for peripapillary microangiopathy in the maternal relatives of patients suspected to suffer from Leber's disease. The article casts doubt on the existence of so-called sporadic Leber's disease.

Adult↗

PubMed1985

Fundus findings in Leber's hereditary optic neuroretinopathy.

The acute stage of Leber's hereditary optic neuritis is characterized by dilated disc arterioles accompanied, in some cases, by superficial peripapillary hemorrhages. Decreased vision caused by centrocecal scotoma is accompanied by slow and deficient capillary filling in the papillomacular bundle and arteriovenous shunting in the upper and lower vascular arcades. These and other vascular changes disappear in the more advanced stages (optic atrophy) of the disease.

Acute Disease↗

PubMed1984

Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies.

Fluorescein angiography was performed in nine members of families with Leber's disease. Serial studies were obtained in four men observed from asymptomatic to atrophic stages. Peripapillary microangiopathy was observed in six of nine asymptomatic eyes. Arteriovenous shunting occurred in the telangiectatic vascular bed. These changes remained stable in some eyes and progressed in others. In the acute stage, arteries and telangiectatic vessels were maximally dilated and flow was rapid. Angiography showed florid shunting in lower and upper vascular arcades and reduced filling of papillomacular capillaries. Vessels of the shunting vascular bed gradually narrowed irregularly. In the atrophic stage, disc vascularity diminished and arteriovenous circulation time increased markedly. Arterioles narrowed and peripapillary microangiopathy disappeared. These findings support our contention that Leber's disease is a hereditary vascular neuroretinopathy.

Adult↗

PubMed1983

Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members.

Eighteen men and four women had Leber's disease. Fundus photographs obtained in three cases showed the following: Peripapillary microangiopathy, present from the beginning, slowly increased during the presymptomatic stage. At the end of the presymptomatic stage, the nerve fiber layer became swollen. During the acute stage, retinal vessels on and around the disc were dilated, tortuous, and telangiectatic. Nerve fiber layer hemorrhages occurred in two eyes. As atrophy appeared first in the papillomacular bundle and then in the remaining retina, the vascular bed involuted, leaving a capillary-poor retina with attenuated arterioles and a pale optic disc. The final degree of atrophy varied. Fifteen of the affected persons were blind with severe optic atrophy, but in seven optic atrophy was only partial, causing less visual handicap. Our results suggest that Leber's disease is primarily an intraocular, not a retrobulbar, optic neuropathy. It should be redesignated as Leber's hereditary neuroretinopathy.

Adolescent↗

PubMed1982

Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members.

A neuro-ophthalmological examination was performed on 47 asymptomatic offspring in the female line and 13 offspring in the male line in families with Leber's hereditary optic neuropathy. Fourteen (61%) of the 23 asymptomatic males and nine (38%) of the 24 asymptomatic females in the female line had telangiectatic microangiopathy of the peripapillary arterioles and capillaries. Increased tortuosity of capillaries, medium-sized arterioles, and venules were also seen in the fundi of several asymptomatic family members. The 13 offsprings in the male line did not have microangiopathy. Nerve fiber abnormalities were not seen in asymptomatic persons. The photographically verified findings are described, classified, and discussed. It is suspected that Leber's disease is primarily a microvascular disorder. The vascular abnormalities detected in the asymptomatic family members probably indicate increased risk of Leber's disease developing. During the prospective follow-up of three years, three asymptomatic boys with microangiopathy have experienced Leber's disease.

Adolescent↗

PubMedDate not supplied

Iris atrophy, serous detachment of the ciliary body, and ocular hypotony in chronic phase of Vogt-Koyanagi-Harada disease.

PURPOSE: To describe iris atrophy, serous detachment of the ciliary body, and ocular hypotony in a patient with chronic phase of Vogt-Koyanagi-Harada (VKH) disease. METHODS: Ocular examination and follow-up including digital infrared transillumination imaging of the iris was done in a 52-year-old woman with chronic phase of VKH disease. RESULTS: Infrared transillumination imaging showed extensive atrophy of the iris stroma and occasional pigment clumps both in the pupillary and ciliary zones of the iris, and detachment of the ciliary body in both eyes. Conventional transpupillary transillumination using white light showed only minute patchy atrophy of the pigment epithelium in the pupillary zone. Treatment did not normalize bilateral shallow retinal detachment of the posterior pole, serous detachment of the ciliary body, or severe ocular hypotony. CONCLUSIONS: Severe atrophy of the iris stroma, retinal detachment of the posterior pole, serous detachment of the ciliary body, and ocular hypotony may occur in chronic phase of VKH disease.

Atrophy↗