ramipril and Retinal-Detachment

Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.. We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first detected at age 6. At the age of 11 she was found to carry a unique homozygous non-truncating LAMB2 mutation in exon 2: c.T240G (p.S80R). Renal biopsy revealed mild diffuse mesangial sclerosis and residual expression of laminin β2. Today at age 14, on treatment with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, she continues to have nephrotic range proteinuria, but a normal glomerular filtration rate.. LAMB2 mutations should be considered in all patients with glomerular proteinuria and abnormal ocular phenotype, irrespective of age and disease severity.

Topics: Abnormalities, Multiple; Adolescent; Angiotensin II Type 1 Receptor Blockers; Angiotensin-Converting Enzyme Inhibitors; Biopsy; Eye Abnormalities; Female; Glomerular Filtration Rate; Humans; Kidney; Laminin; Losartan; Mutation; Mutation, Missense; Myasthenic Syndromes, Congenital; Myopia; Nephrotic Syndrome; Phenotype; Proteinuria; Pupil Disorders; Ramipril; Retinal Detachment; Vision Disorders

Intake of ACE inhibitors may promote angioedema which can appear months and years after the medication has been stopped. Surgery and local anaesthesia can further aggravate angioedema. A 61-year-old patient with age-related cataract was admitted to our hospital for elective out-patient cataract surgery. A few days after surgery, the patient complained of pain and reduced vision in the operated eye.. Postoperative findings were elevated intraocular pressure (28 mmHg) and a significant reduction of vision. The anterior chamber was shallow. Ophthalmoscopy showed a circumferential choroidal and focal exudative retinal detachment. Local and systemic therapy with antiglaucomatous medications as well as steroids (methylprednisolone) and antibiotics (ciprofloxacin) resulted in control of the eye pressure and an increase of vision. After two weeks, the choroidal detachment disappeared. Important preexisting diseases included a minimal change glomerulonephritis under treatment with low doses of cortisone (4 mg), as well as arterial hypertension. An ACE inhibitor (ramipril) was taken.. ACE inhibitor intake might be associated with choroidal effusion. A preoperative change to another antihypertensive medication should be considered in patients with a tendency to develop angioedema. A glomerulonephritis might also support edema. Patients with such edema should undergo diagnostic evaluation and receive treatment before cataract surgery.

Topics: Angioedema; Angiotensin-Converting Enzyme Inhibitors; Antihypertensive Agents; Cataract Extraction; Choroid Diseases; Ciprofloxacin; Drug Therapy, Combination; Humans; Hypertension; Male; Methylprednisolone; Middle Aged; Nephrosis, Lipoid; Nephrotic Syndrome; Ocular Hypertension; Postoperative Complications; Ramipril; Retinal Detachment; Risk Factors