Retinal Abnormalities Characteristic of Inherited Renal Disease

Savige, Judy; Ratnaike, Sujiva; Colville, Deb

doi:10.1681/asn.2010090965

Cited by 39 publications

(35 citation statements)

References 152 publications

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“…This is particularly true of inherited renal disease because the inner retina and glomerular filtration barrier share developmental pathways (15) and structural features (16), including ciliated epithelial cells (17), basement membranes comprising ␣3␣4␣5 collagen IV, and the extensive capillary beds seen in the choriocapillaris and glomerulus (18). Retinal abnormalities in inherited renal disease include drusen (Alport syndrome, dense deposit disease), coloboma (reflux nephropathy), retinitis pigmentosa (nephronophthisis; Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes [MELAS] syndrome), crystal deposits (oxalosis, cystinosis), and vascular anomalies (Hereditary Angiopathy, Nephropathy, and muscle Cramps syndrome; Fabry disease) (19,20). Retinal effects in acquired renal disease include vasculitis and infarcts in systemic lupus erythematosus, Wegener granulomatosis and microscopic polyangitis (21,22), and possibly central serous retinopathy in Goodpasture syndrome, in which antibodies bind to the internal limiting and Bruch membranes (23).…”

Section: Introductionmentioning

confidence: 99%

Vision-Threatening Retinal Abnormalities in Chronic Kidney Disease Stages 3 to 5

Deva¹,

Alias²,

Colville³

et al. 2011

Clinical Journal of the American Society of Nephrology

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SummaryBackground and objectives Retinal abnormalities are common in inherited and acquired renal disease. This study determined the prevalence of retinal abnormalities in chronic kidney disease (CKD) stages 3 to 5.Design, setting, participants, & measurements One hundred fifty patients with CKD stages 3 to 5 and 150 age-and gender-matched hospital patients with CKD stages 1 to 2 underwent bilateral retinal photography. These images were reviewed for incidental abnormalities, microvascular (Wong and Mitchell classification) and diabetic retinopathy (Airlie House criteria), and macular degeneration (Seddon classification).Results Three (2%) patients with CKD stages 3 to 5 had retinal features characteristic of inherited renal disease (atrophy in Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes [MELAS] syndrome; and 2 with drusen in dense deposit disease). Fifty-nine (39%) patients had moderate-severe microvascular retinopathy (hemorrhages, exudates, etc.) compared with 19 (13%) with CKD stages 1 to 2. Forty-one (28%) had moderate-severe diabetic retinopathy (microaneurysms, exudates, etc.) compared with 16 (11%) with CKD stages 1 to 2. Ten (7%) had severe macular degeneration (geographic atrophy, hemorrhage, exudates, membranes) compared with one (1%) with CKD stages 1 to 2. Renal failure was an independent risk factor for microvascular retinopathy, diabetic retinopathy, and macular degeneration. Eleven (7.3%) patients with renal failure and one (0.7%) with CKD stages 1 to 2 had previously unrecognized vision-threatening retinal abnormalities that required immediate ophthalmologic attention. ConclusionsRetinal abnormalities are common in CKD stages 3 to 5, and are more severe and more likely to threaten vision than in hospital patients with CKD stages 1 to 2.

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Section: Introductionmentioning

confidence: 99%

Vision-Threatening Retinal Abnormalities in Chronic Kidney Disease Stages 3 to 5

Deva¹,

Alias²,

Colville³

et al. 2011

Clinical Journal of the American Society of Nephrology

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“…Doyne’s familial honeycomb dystrophy can have onset in the fourth decade, but the patient’s drusen topography and lack of family history of this autosomal dominant disease makes it an unlikely diagnosis (Piguet et al, 1995). Other inherited drusen syndromes tend to present in childhood or occur with concurrent systemic symptoms not seen in this patient (Savige et al, 2011). Thus, the patient’s AMD risk alleles and clinical examination make early-onset AMD the most likely explanation.…”

Section: Discussionmentioning

confidence: 81%

AMD-like retinopathy associated with intravenous iron

Song

Kanu

et al. 2016

Experimental Eye Research

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Iron accumulation in the retina is associated with the development of age-related macular degeneration (AMD). IV iron is a common method to treat iron deficiency anemia in adults, and its retinal manifestations have not hitherto been identified. To assess whether IV iron formulations can be retina-toxic, we generated a mouse model for iron-induced retinal damage. Male C57BL/6J mice were randomized into groups receiving IV iron-sucrose (+Fe) or 30% sucrose (−Fe). Iron levels in neurosensory retina (NSR), retinal pigment epithelium (RPE), and choroid were assessed using immunofluorescence, quantitative PCR, and the Perls’ iron stain. Iron levels were most increased in the RPE and choroid while levels in the NSR did not differ significantly in +Fe mice compared to controls. Eyes from +Fe mice shared histological features with AMD, including Bruch’s membrane (BrM) thickening with complement C3 deposition, as well as RPE hypertrophy and vacuolization. This focal degeneration correlated with areas with high choroidal iron levels. Ultrastructural analysis provided further detail of the RPE/photoreceptor outer segment vacuolization and Bruch’s membrane thickening. Findings were correlated with a clinical case of a 43-year-old patient who developed numerous retinal drusen, the hallmark of AMD, within 11 months of IV iron therapy. Our results suggest that IV iron therapy may have the potential to induce or exacerbate a form of retinal degeneration. This retinal degeneration shares features with AMD, indicating the need for further study of AMD risk in patients receiving IV iron treatment.

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“…WT1 is necessary for ureteric bud formation (Mrowka and Schedl 2000) as well as retinal ganglion cell differentiation (Wagner, Wagner et al 2002). There are a number of retinal abnormalities found in inherited renal diseases (Savige, Ratnaike et al 2011). However, γ-crystallins appear to only be expressed in the lens as opposed to α-crystallins and other eye proteins that are also expressed in other tissues and organs (Graw 1997).…”

Section: Discussionmentioning

confidence: 99%

A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain

et al. 2013

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Cataracts are a major cause of blindness. The most common forms of cataracts are age and UV related and develops mostly in the elderly, while congenital cataracts appear at birth or in early childhood. The Dahl salt-sensitive (SS/Jr) rat is an extensively used model of salt-sensitive hypertension that exhibits concomitant renal disease. In the mid 1980’s, cataracts appeared in a few animals in the Dahl S colony, presumably the result of a spontaneous mutation. The mutation was fixed and bred to establish the SS/Jr-Ctr substrain. The SS/Jr-Ctr substrain has been exclusively used by a single investigator to study the role of steroids and hypertension. Using a classical positional cloning approach, we localized the cataract gene with high-resolution to a less than 1 Mbp region on chromosome 9 using an F1 (SS/Jr-Ctr X SHR) X SHR backcross population. The 1 Mbp region contained only 13 genes, including 4 genes from the γ-crystallins (Cryg) gene family which are known to play a role in cataract formation. All of the γ-crystallins were sequenced and a novel point mutation in the start codon (ATG → GTG) of the Crygd gene was identified which led to the complete absence of CRYGD protein in the eyes of the SS/Jr-Ctr strain. In summary, the identification of the genetic cause in this novel cataract model may provide an opportunity to better understand the development of cataracts, particularly in the context of hypertension.

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Retinal Abnormalities Characteristic of Inherited Renal Disease

Cited by 39 publications

References 152 publications

Vision-Threatening Retinal Abnormalities in Chronic Kidney Disease Stages 3 to 5

Vision-Threatening Retinal Abnormalities in Chronic Kidney Disease Stages 3 to 5

AMD-like retinopathy associated with intravenous iron

A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain

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