The Alstrom syndrome: ophthalmic histopathology and retinal ultrastructure.

Sebag, J.; Albert, Daniel M.; Craft, Joseph L.

doi:10.1136/bjo.68.7.494

Cited by 55 publications

(27 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Even though necropsy ®ndings of micronodular hepatic cirrhosis and splenomegaly attributed to chronic alcoholism in a 32-year-old male were mentioned in one case of Alstrom syndrome in 1984 [Sebag et al, 1984], it was not until 1991 that hepatic involvement in this syndrome was ®rst described in Western literature [Connolly et al, 1991]. In this patient, liver disease was diagnosed at eight years of age, with pathological ®ndings of chronic active hepatitis.…”

Section: Discussionmentioning

confidence: 92%

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

2001

View full text Add to dashboard Cite

We report a case of Alstrom syndrome with evidence of extensive hepatic disease diagnosed at five years of age, who subsequently developed acute liver failure and died at eight years of age. Such a case, with the patient dying before the age of ten, has not been described before. The biochemical findings during our patient's liver failure raised the question of a possible mitochondrial function defect in this syndrome. Further investigation of this possibility is needed.

show abstract

Section: Discussionmentioning

confidence: 92%

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

2001

View full text Add to dashboard Cite

show abstract

“…The optic disks progressively lose their color and become pale and waxy. This paleness is not due to optic atrophy but seems to have a fibroglial origin [17]. There are two hypotheses to explain vascular shrinkage: First, the decrease in oxygen consumption by external layers of the retina leads to an increase in intra-arteriolar oxygen pressure.…”

Section: At 18 Years Oldmentioning

confidence: 99%

“…The ambiguous term of atypical pigmentary retinopathy, due to lack of bone spicules, applies to pathology characterized by the constant lack of pigmentary clumps and not only at an early state of the disease. These pigmentary clumps are aggregations of melanin in the form of an osteoblast, due to the degradation of photoreceptors [17]. The optic disks progressively lose their color and become pale and waxy.…”

Section: At 18 Years Oldmentioning

confidence: 99%

Three new cases of Alström syndrome

Benso

Hadjadj

Conrath

et al. 2002

Graefe's Arch Clin Exp Ophthalmol

View full text Add to dashboard Cite

show abstract

“…52 AH has also been documented to be present in patients with retinitis pigmentosa, [59][60][61] or pigmentary retinal degeneration. 62 In addition to retinal changes, other factors appear to influence the development of AH in dogs. In studies in which dogs were made aphakic by phacoemulsification surgery before galactose feeding, 63 AH was clinically observed to occur after 25 months of galactose feeding.…”

Section: The Galactose-fed Dogmentioning

confidence: 99%

Asteroid hyalosis: pathogenesis and prospects for prevention

Kador

Wyman

2008

Eye

View full text Add to dashboard Cite

Asteroid hyalosis (AH) is a common degenerative process in which fatty calcium globules collect within the vitreous humour. The condition rarely causes visual disturbances, and surgical removal is only rarely required. The presence of AH has been associated with systemic diseases such as diabetes; however, research in this area has been hampered by the lack of an animal model of AH. Recently, we have reported that AH occurs in galactose-fed beagles that develop the advanced stages of diabetes-like retinopathy. Comparisons of vitreous humour containing asteroid bodies (ABs) collected from these galactose-fed beagles and vitreous samples from age-matched normal beagles without ABs indicate that ABs contain calcium and phosphorous. Subtraction analysis of chloroform extracts of the vitreous samples by electrospray mass spectroscopy resulted in the identification of the quasimolecular ion of 1,2-dipalmitoyl-glycero-3-phosphoethanolamine (DPPE) as the main component of ABs. Since several reports indicate that ABs are composed of lipid-calcium complexes, we have proposed that the main component of ABs in the galactose-fed dogs with AH is a quasimolecular ion of DPPE in which two molecules of DPPE are complexed through their phosphates groups with calcium. We suggest that these lipid components diffuse into the vitreous from the degenerating retinas of these dogs.

show abstract

The Alstrom syndrome: ophthalmic histopathology and retinal ultrastructure.

Cited by 55 publications

References 8 publications

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

Three new cases of Alström syndrome

Asteroid hyalosis: pathogenesis and prospects for prevention

Contact Info

Product

Resources

About