Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by α-L-iduronidase deficiency, resulting in accumulation of glycosaminoglycans (GAG). Ophthalmological manifestations are common in MPS I patients and often lead to visual impairment. Accumulation of GAG in corneal or retinal tissues reduces vision causing corneal opacity and neurosensory complications. One available treatment for MPS I patients is enzyme replacement therapy (ERT), but the results of such treatment on eye disease are still debatable. Therefore, we aimed to determine the progression of ocular manifestations as well as the effectiveness of intravenous ERT in MPS I. METHODS: Corneal and retinal analyses were perform in eyes from 2- to 8-month normal and MPS I mice. Some MPS I mice received ERT (1.2 mg/kg of laronidase) every 2 weeks from 6 to 8 months and histological findings were compared with controls. Additionally, cornea from two MPS I patients under ERT were evaluated. RESULTS: Mouse corneal tissues had GAG accumulation early in life. In the retina, we found a progressive loss of photoreceptor cells, starting at 6 months. ERT did not improve or stabilize the histological abnormalities. MPS I patients, despite being on ERT for over a decade, presented GAG accumulation in the cornea, corneal thickening, visual loss and needed corneal transplantation. CONCLUSION: We provide data on the time course of ocular alteration in MPS I mice. Our results also suggest that ERT is not effective in treating the progressive ocular manifestations in MPS I mice and fails to prevent corneal abnormalities in patients.

Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective.

OBJECTIVE: To describe visual outcomes after penetrating keratoplasty and deep anterior lamellar keratoplasty in patients with mucopolysaccharidoses. METHODS: This is a retrospective review of keratoplasty in consecutive patients from Brazil, England, Finland, Germany, Portugal, Sweden and the USA. All patients had corneal clouding due to mucopolysaccharidoses. Preoperative and postoperative visual outcome and ocular comorbidities were identified. Success was arbitrarily defined as any improvement in visual acuity or best-corrected visual acuity better than logarithm of the minimum angle of resolution 0.30 (20/40). Statistical analysis included only data from first operated eyes in the 16 patients who underwent bilateral keratoplasty. RESULTS: Forty-eight eyes from 32 patients with mucopolysaccharidoses I, IV or VI are reported. Mean follow-up was 70 months (range: 5-186). Penetrating keratoplasty was performed in 45 eyes and deep anterior lamellar keratoplasty in 3 eyes. At last follow-up, a successful visual outcome for penetrating keratoplasty in first operated/only operated eyes was found in 63%. Rejection episodes occurred in 23% of grafts; however, a clear graft was recorded at last follow-up in 94%. Ocular pathway comorbidities were identified in 63% of eyes transplanted. CONCLUSIONS: Clear corneal grafts can be obtained for patients with corneal clouding due to mucopolysaccharidosis with improvement in visual acuity in the majority.

Effects of Muller's muscle-conjunctival resection for ptosis on ocular surface scores and dry eye symptoms.

This article evaluates the effects of Muller's muscle-conjunctival resection (MMCR) on ocular surface scores and dry eye symptoms. Forty-six patients were enrolled in the study. Eighteen underwent bilateral upper eyelid skin excision with MMCR and 28 underwent bilateral upper eyelid skin-only excision (control group). The Salisbury Eye Evaluation Questionnaire and an ocular surface evaluation protocol consisting of Schirmer's test, tear break-up time (TBUT), fluorescein and rose bengal corneal staining were performed during the pre-operative consultation and on postoperative days 7, 30, and 90. Improvement in symptoms questionnaire scores from baseline was observed on postoperative day 90 in the blepharoplasty plus MMCR group. There was no change in questionnaire scores in patients who underwent blepharoplasty alone. No between-group difference in Schirmer's test, TBUT, or fluorescein and rose bengal staining was found at any time point. In the blepharoplasty-only (control group), the fluorescein staining score was reduced on postoperative day 30 as compared to baseline, but not on day 90. In this sample, addition of MMCR to upper eyelid blepharoplasty did not worsen ocular surface scores or dry eye symptoms.

Topical 0.03% tacrolimus preventing rejection in high-risk corneal transplantation: a cohort study.

BACKGROUND/AIMS: The present study aims to identify the rate of rejection and safety of 0.03% tacrolimus eye drops associated with 1% prednisolone in a topical formulation, comparing them with the use of 1% prednisolone eye drops alone in patients with high-risk corneal transplantation. METHODS: Retrospective cohort study with 72 patients (72 eyes) who underwent more than one penetrating keratoplasty (PK) in the same eye or had severe chemical burn between 2004 and 2011 in the department of cornea and external disease of the Clinical Hospital of Porto Alegre, Brazil. We compared the records of 36 patients that performed unilateral PK and received only 1% prednisolone eye drops between May 2004 and July 2008, with 36 patients that received 0.03% tacrolimus eye drops in addition to 1% prednisolone between August 2008 and August 2011. RESULTS: The mean follow-up of the group exposed to tacrolimus was 23.1 months and 24.0 in the prednisolone alone group. The demographics, intraoperative and initial indications for first PK were similar between groups, as well as the number of regrafts performed. Intraocular pressure (IOP) was not statistically different among groups. Regarding irreversible rejections, topical tacrolimus showed greater protection: only seven grafts (19.4%) lost transparency against 16 (44.4%) in the 1% prednisolone alone group (p <0.05). CONCLUSIONS: Topical 0.03% tacrolimus was effective in preventing irreversible rejection in patients with high-risk corneal transplantation without increasing IOP.

Orbscan II and double-K method for IOL calculation after refractive surgery.

BACKGROUND: Precise IOL calculation in post-refractive surgery patients is still a challenge for the cataract surgeon. The purpose of this study is to test whether adding Orbscan II values into the double-K method improves IOL calculation in this group of patients. METHODS: A prospective study with 43 eyes previously submitted to refractive surgery that underwent cataract extraction. IOL calculation was performed with double-K method. Post-K value was derived from Orbscan total-mean power map. The average corneal curvature of the general population (43.8D) was used as the pre-K value. Refraction results 30 days after surgery were compared with refraction that would be obtained if we used: (1) post-K values from keratometry, (2) post-K values from topography, and (3) pre-K values from Orbscan total-mean power. Anterior chamber depth measures obtained with the IOL Master and Orbscan II were compared. RESULTS: Mean postoperative spherical equivalent (SE) was -0.25 ± 1.10 D in eyes submitted to radial keratotomy , -1.04 ± 1.42 D in eyes previously submitted to myopic Lasik, and +0.05 ± 1.76 D in those submitted to hyperopic surgeries. Had we inputted post-K values derived from keratometer and from topography, we would have obtained significantly higher postoperative refractive errors in eyes previously submitted to myopic refractive surgery (p < 0.05). Refractions using pre-K derived from the central 8 mm Orbscan instead of 43.8 D were similar in all studied groups (p > 0.05). Anterior chamber depth measured with IOL Master or Orbscan were similar. CONCLUSIONS: Orbscan measurements used as the post-K values into the double-K method provide a precise IOL calculation, especially in post myopic refractive surgery patients.

Labial salivary gland transplantation for severe dry eye due to chemical burns and Stevens-Johnson syndrome.

PURPOSE: Salivary gland transplantation has been a promising alternative for the treatment of dry eye syndrome. In this article, we describe the results of an autotransplant procedure of labial salivary glands in the upper conjunctival fornix of patients with severe dry eye. METHODS: A total of 14 eyes from 14 patients presenting with Stevens-Johnson syndrome and chemical burns were prospectively analyzed after surgery (average follow-up of 14 months). We evaluated their underlying symptoms, visual acuity, biomicroscopy, Schirmer's test, break-up time, and need for lubricants before and after transplantation. RESULTS: All patients expressed improvement in their ocular discomfort. Nine eyes showed a slight best-corrected visual acuity improvement, while the vision of the remainder stayed stable. Corneal staining, present in all patients before surgery, was persistent in only four patients, but in a reduced area. Schirmer's test and break-up time showed significant increase in all patients (p < 0.05). In 71% of the patients, the use of lubricants was reduced. CONCLUSION: Labial salivary gland transplantation can improve the life quality of patients with compromised ocular surfaces who suffer from severe dry eye syndrome.

Ictiose lamelar com complicaçöes oculares: relato de um caso / Lamelar ictiosis with ocular complications: a case report

A ictiose lamelar é uma doença caracterizada por hiperceratäo da pele, ectrópio palpebral, conjuntivite e ceratite. Apresentamos um caso de úlcera corneana por exposiçäo, com infecçäo bacteriana e micótica secundária, em um paciente portador desta patologia. Säo descritas alternativas para terapêutica ocular bem como para correçäo do ectrópio