Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin

AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-year-old Chinese woman presented with vitreous amyloidosis and progressive visual impairment,without evidence of cardiac,renal,gastrointestinal,central nervous system or peripheral nervous system dysfunction.During the surgery,the patient presented with a gray-white dense and thick cotton woollike change in the vitreous body,accompanied by complete retinal detachment.Additionally,hard,free and movable yellow-white deposits were observed in the posterior pole and surrounding retina,the vitreous and subretinal deposits were examined by Congo red staining and immunohistochemical pathological examination,and whole exome sequencing was performed on blood samples from the patient and her cousin.RESULTS:During the operation,it was discovered that there was a complete detachment of the retina and a significant amount of hard,free-floating yellow-white deposits were observed beneath the posterior pole and surrounding retina.This is an exceedingly rare ocular manifestation.Pathological examination of the vitreous and subretinal deposit specimens revealed positive Congo red staining,as well as elevated vascular endothelial growth factor(VEGF)expression in vascular endothelial cells within the sediment specimens upon immunohistochemical examination.The patient and her cousin both exhibited a heterozygous mutation in Glyl03Arg within the transthyretin(TTR)gene,resulting in a substitution of glycine(Gly)at position 103 with arginine(Arg).CONCLUSION:FVA may present with various ocular manifestations,but panretinal detachment is a rare occurrence.In cases where retinal detachment persists for an extended period of time,amyloid deposits may form under the retina through retinal tears,leading to subretinal deposits that can impede retinal reattachment and negatively impact visual prognosis.Elevated levels of VEGF in the eyes of FVA patients may indicate an overexpression state,necessitating careful postoperative follow-up.The heterozygous mutation Gly103Arg may represent a unique pathogenic site in Chinese individuals.

Vitrectomy for vitreous amyloidosis

AIM: To study the clinical features of vitreous amyloidosis and the effect of vitrectomy for it. METHODS: We treated 6 eyes (4 Patients) with vitreous amyloidosis from 2008 to 2009, and followed up for 18-30 months after vitrectomy. RESULTS: The visual acuity ranged from counting fingers to 3/50 before surgery and 15/50-40/50 after vitrectomy. No severe complication was observed. CONCLUSION: Vitrectomy is an effective and safe treatment for eyes with vitreous amyloidosis. A long period of follow-up after surgery should be performed.

Vitreous amyloidosis caused by a Lys55Asn variant in transthyretin: A case report

BACKGROUND Amyloidosis is caused by misfolding of proteins and is characterized by formation of extracellular aggregates of insoluble fibrin.The primary effects in the eye include sharp deterioration of visual acuity as a result of vitreous opacity.According to the local and systemic distribution characteristics of amyloid deposits and their fibrin components,amyloidosis can be classified as primary,secondary or familial.Therefore,we report a typical case of vitreous amyloidosis in hereditary transthyretin amyloidosis(hATTR)to improve ophthalmologists’understanding of the disease and reduce misdiagnosis and recurrence.CASE SUMMARY The patient was a 49-year-old man who complained of progressive visual decline in both eyes over a 2-mo period.No systemic diseases such as diabetes or hypertension were reported,and no obvious family history of disease was identified.The patient’s visual acuity was HM/10 cm in the right eye and 0.06 in the left eye.He had a transparent cornea in both eyes,with a normal anterior depth,clear aqueous humor,no obvious iris abnormalities,round pupils of approximately 3 mm in diameter,normal direct and indirect light reflexes,and normal intraocular pressure.After various examinations,the patient was diagnosed with binocular vitreous amyloidosis secondary to hATTR associated with a Lys55Asn variant in TTR.The binocular visual acuity recovered to 1.0 after binocular vitrectomy.CONCLUSION Vitreous amyloidosis is rare in the clinic and gene testing can assist the diagnosis accurately and effectively.