De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy.

The familiar amyloid polyneuropathy (FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs more frequently and extensively in the vitq. The increase in intraocular pressure (IOP) is a result of deposition of transthyretin (TTR) in trabecular meshwork. Rarely, the amyloid deposition in anterior segment can be more exuberant than in posterior segment. A 42 years old man, with FAP (Val30Met mutation), liver transplantation in 1997. He was asymptomatic, without any significant ocular abnormality until 2011. In 2011 he had an episode of pain in right eye (RE). Scalloped pupils, pupillary amyloid deposits and subtle vitreous opacities were detected. The IOP was 40 mmHg in RE and 28 mmHg in left eye (LE) with open angle. Optical coherence tomography detected a temporal superior retinal nerve fiber layer defect in LE and perimetry was normal. Topical timolol was initiated, and brimonidine was subsequently added to improve IOP control, which was achieved with topical medication until last evaluation. No progression occurred since 2011. Actually, with longer life expectancies, there is an increased risk of ocular involvement in FAP, even after liver transplantation. Although rare, a more exuberant amyloid deposition in anterior segment vs posterior segment can occur, and supports an important role of amyloid production in ciliary pigment epithelium in these patients. Medical control of IOP and a stable course are unusual in this secondary glaucoma. Ophthalmologists have an important task in the follow-up of patients and early diagnosis of risk factors for secondary glaucoma, such as scalloped pupils with amyloid deposits.

Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.

A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss.

Retropupilar positioning of foldable iris-claw intraocular lens for correction of aphakia with no capsular support.

SUMMARY: Iris-claw intraocular lens (ICIOL) for aphakia needs a large 5.4 mm corneal incision for its implantation. The technique needs corneal suture, associated with some postoperative astigmatism. Foldable ICIOL is used in phakic patients undergoing refractive surgery and has the advantage of a sutureless small corneal incision. We report a case of a high myopic patient with dislocated intraocular lens (IOL) and no capsular support. Dislocated IOL with its capsular bag was released with three-port, 23-gauge vitrectomy; placed in the anterior chamber; sliced; and extruded through a 3.2-mm corneal incision, where a foldable ICIOL was introduced and placed retropupillary. This technique achieved a stable fixation of the IOL. Retropupillary implantation of a foldable ICIOL on aphakic patients has advantages over that of a polymethylmethacrylate (PMMA) ICIOL due to smaller corneal incision. The technique may be safe and easy to perform. PURPOSE: The purpose of this report was to describe the technique of retropupillary implantation of a foldable iris-claw intraocular lens (ICIOL) in a patient with dislocated intraocular lens (IOL) in mid vitreous cavity. METHODS: Foldable ICIOL (Artiflex® Myopia Model 401) is used in phakic patients undergoing refractive surgery and has the advantage of a sutureless small corneal incision. We report a case of a high myopic patient with dislocated IOL and no capsular support. The calculation was a -5.0 D IOL for retropupilar position, and a foldable ICIOL was introduced through a 3.2-mm corneal incision and placed retropupillary. RESULTS: The technique was easy to achieve. IOL was properly positioned retropupillary and maintained stable. There was no ocular hypertension and no anterior chamber flare or iris atrophy. CONCLUSION: Retropupillary implantation of a foldable ICIOL on aphakic patients has advantages over that of a PMMA ICIOL due to smaller corneal incision. The technique may be safe and easy to perform.