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Biomedical subjects

J Heckenlively

Publications and source records attributed to J Heckenlively.

13 recordsLinked to original sources
PubMed1996

The occurrence of serum autoantibodies against enolase in cancer-associated retinopathy.

Cancer-associated retinopathy (CAR) is an uncommon paraneoplastic disease in which degeneration of the retina occurs as a remote effect of cancer in a distant part of the body. Immunoreactivity of sera from CAR patients and controls have been analyzed. Immunostaining of human retinal proteins showed that a soluble protein of Mr approximately 46 kDa (p46) is labeled by antibodies from several CAR patients with various types of cancer (lung, breast, bladder, prostate, salivary gland, and gastrointestinal tract cancer and chronic lymphocytic leukemia). These sera did not show reactivity with the 23-kDa protein previously associated with CAR. To identify and further characterize p46, the retinal protein was purified to homogeneity by anion-exchange chromatography and preparative gel electrophoresis. Protein sequence analysis of the peptides from p46 revealed a high homology with human enolase, an important glycolytic enzyme. Although enolase has been previously identified as a product of several types of tumors, and enolase activity has been detected in the sera of some cancer patients, the existence of autoantibodies directed to enolase has not been described. This is the first report of the presence of serum antibodies to retinal enolase in the patients with cancer and the CAR syndrome. When antibodies of specific isotypes (IgG, IgM, and IgA) were measured, IgG1 isotype was dominant. The significance of these antibodies for the disease process is under investigation.

Aged↗
PubMed1993

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects with congenital stationary night blindness. Eight of these mutations (gly51-to-ala, val104-to-ile, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, val209-to-met, and his211-to-arg) produce amino acid substitutions, one (gln64-to-ter) introduces a stop codon, and one changes a guanosine in the intron 4 consensus splice donor sequence to thymidine. Cosegregation of RP with gln64-to-ter, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, his211-to-arg, and the splice site guanosine-to-thymidine indicates that these mutations are likely to cause retinal disease. Val104-to-ile does not cosegregate and is therefore unlikely to be related to retinal disease. The relevance of gly51-to-ala and val209-to-met remains to be determined. The finding of gln64-to-ter in a family with autosomal dominant RP is in contrast to a recent report of a recessive disease phenotype associated with the rhodopsin mutation glu249-to-ter. In the present screen, all of the mutations that cosegregate with retinal disease were found among patients with RP. The mutations described here bring to 35 the total number of amino acid substitutions identified thus far in rhodopsin that are associated with RP. The distribution of the substitutions along the polypeptide chain is significantly nonrandom: 63% of the substitutions involve those 19% of amino acids that are identical among vertebrate visual pigments sequenced to date.

Alleles↗
PubMed1991

Surgical management of retinal detachment associated with the acute retinal necrosis syndrome.

We operated on nine eyes in eight patients with retinal detachment associated with acute retinal necrosis (ARN) syndrome. The patients were treated with scleral buckling, vitreoretinal surgery, or a combination of these treatments. Vitrectomised eyes underwent combinations of lensectomy, membrane dissection, scleral buckling, air-fluid exchange, endolaser photocoagulation, cryotherapy, and retinal tamponade with C3F8 gas or SF6 gas. Macular attachment was achieved in eight (89%) eyes. Vision improved in seven (78%) eyes, of which five (56%) achieved 20/200 or better vision. Three eyes that had received laser treatment posterior to areas of retinitis suffered retinal detachment despite this prophylactic treatment. Poor visual outcome resulted from viral infection of the optic nerve or macular involvement, macular hole formation, macular pucker, or hypotony.

Adolescent↗
PubMed1990

Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother.

Rearrangement of the proximal long arm of chromosome 15 have been found in most patients with the Prader-Willi syndrome (PWS) and in some with Angelman syndrome. We present an individual with syndromic obesity and her normal mother, who both have an abnormal chromosome 15. The proposita is a 26-year-old women with marked obesity, acanthosis, nigricans, short fingers, and severe cone degeneration of the retina. She has high plasma insulin levels, hypothyroidism, and an empty sella on CT scan. High-resolution chromosome banding demonstrated an increase in band 15q12. Further analysis showed the same abnormal 15 in her normal mother but not in her normal sister. This case and recent reports in the literature indicate that duplication of chromosome 15q in the PWS region may be associated with a syndrome of obesity, acanthosis nigricans, empty sella, and rodcore dystrophy as well as with a normal phenotype. Whether normal individuals with such a duplication carry increased risk of having offspring with an obesity syndrome is yet to be determined.

Acanthosis Nigricans↗
PubMed1985

Autoimmunity in hereditary retinal degeneration. I. Basic studies.

One hundred and sixteen patients with retinitis pigmentosa (RP), 64 patients with other eye diseases, and 36 control subjects with no known eye disease were examined for antiretinal autoimmune activity. Sera were screened by indirect immunofluorescence on normal donor human eye sections to detect antibodies to human retinal antigens. Forty three of 116 RP patients (37%), 21 out of 64 non-RP patients with other eye diseases (33%), and 1 out of 42 controls (2%) had antibodies reacting with donor eye retinal antigens. Lymphocytes were tested by an in vitro transformation assay to detect cell mediated immunity to retinal antigens. Sixteen RP patients (19%), 11 non-RP patients (18%), and four controls (10%) showed lymphocyte sensitisation. Autoimmune responses were detected in many degenerative ocular disorders, but it is not known if they play a contributory pathogenic role.

Autoantibodies↗
PubMed1982

The frequency of posterior subcapsular cataract in the hereditary retinal degenerations.

I analyzed the frequency and severity of posterior subcapsular cataracts in 291 patients with various forms of hereditary retinal degeneration, including typical retinitis pigmentosa (rod-cone degeneration), cone-rod degeneration, Usher's syndrome, and choroideremia. The overall frequency of posterior subcapsular cataract was 41%, less than generally thought. Posterior subcapsular cataracts were least common in cone-rod degeneration, and most common in the group with autosomal dominant retinitis pigmentosa. Only in the group with sporadic retinitis pigmentosa was a significant sex preference noted; females were affected more often (P less than or equal to .002). Severity was related to age of the patient and duration of disease in those affected. Posterior subcapsular cataract formation is unlikely to be an intrinsic expression of the various genes of hereditary retinal degeneration.

Adolescent↗
PubMed1981

Traumatic pigmentary retinopathy.

A 56-year-old man with unilateral pigmentary retinopathy had sustained an ocular injury ten years previously. Pathologic examination of the enucleated eye disclosed a spicular pigmentary pattern of the retina in the temporal and inferior sectors. The macular region showed only selective loss of photoreceptor cells and epiretinal membrane formation. The nasal and superior sectors were unremarkable. These findings suggested that traumatic pigmentary retinopathy is not a progressive lesion that always leads to total retinal destruction.

Eye Injuries↗
PubMed1979

Congenital perforated cornea in Peter's anomaly.

A male infant was born with a perforated left cornea associated with bilateral central corneal defects caused by mesodermal dysgenesis. Smears and culture of the perforated cornea revealed no infectious agents, and there was no evidence of systemic infection in the child or mother at birth. Histopathologic material excised during keratoplasty was compatible with persistent hyperplastic vitreous, possibly causing a forward displacement of the lens/iris diaphragm with pressure on the corneal endothelium and possible dissolution of the cornea leading to perforation. The relationship of increased intraocular pressure in this case was unknown.

Cornea↗