Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.

The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, intellectual delay, severe generalized hypotonia with absent tendon reflexes, and proximal renal tubular dysfunction. Congenital bilateral cataracts and hypotonia are present at birth in almost all patients, while other classical symptoms develop gradually with variable severity. Consequently, differential diagnosis in infant period in these patients can be broad including other rare metabolic and neurologic disorders. Herein we present a 4.5 year old boy with Lowe syndrome caused by mutation of OCRL gene, NM_000276.4:c.643C > T; p.(Gln215*), initially diagnosed as having mitochondriopathy due to alteration of mitochondria on electron microscopic examination in different tissues and decreased values of mitochondrial energy metabolism measurements in muscle. No pathogenic mutations in mitochondrial DNA were found on whole exome sequencing. This patient recall historical hypothesis of secondary mitochondrial dysfunction in Lowe syndrome, that may be caused/intensified by some of disease symptoms.

Echography in extreme postoperativne ocular hypotony: case report.

A case is presented of excessive optic disk edema upon evacuation of the silicon oil instilled after vitrectomy. Retinal detachment in the right myopic eye of a 45-year-old female patient was the indication for vitrectomy with instillation of silicon oil. Consecutive cataract formation, shallow anterior chamber and corneal edema with slight ocular hypertonus lasting for two months were the reasons to perform phacoemulsification with posterior chamber lens implantation and silicon oil evacuation. Shallow anterior chamber and corneal edema persisted, accompanied by excessive hypotony. Echography revealed a highly echogenic massive lesion protruding from the posterior pole into the vitreal space without initial double spike, casting a shadow upon distal structures. The retrobulbar part of the optic nerve was not visible. Echographic presentation of the massive lesion was not corresponding to choroidal detachment and the diagnosis of excessive papilledema was established. Another procedure with refilling of the eye with silicon oil to restore the hypotony was performed. Regression of the papilledema was gradual, intraocular pressure normalized, and control echography showed flat optic nerve head.

Cross-sectional study of ocular optical components interactions in emmetropes.

Purpose of the paper was to evaluate ocular optical components (OOC) interactions in a large number of emmetropes. A cross-sectional study of 1,000 emmetropes, aged from 18-40 years, has been conducted. Complete ophthalmological examination, corneal radius (CR) measurement, keratometry and echobiometry of both eyes were performed. The highest correlation of OOC was that of axial length (Ax) with vitreal body (CV) on both eyes (r = 0.79 for the right eye (RE); r = 0.81 for the left eye (LE)). The axial length had a positive correlation with the anterior chamber depth (ACD) on both eyes as well, but the coefficient was very low (r = 0.29 for the RE; r = 0.32 for the LE). The only negative correlation Ax had on both eyes was with the lens (L) (r = -0.17 for the RE; r = -0.19 for the LE). Keratometry of the horizontal (K1) and vertical meridian (K2) showed a negative correlation with CV and Ax on both eyes (for K1 r = -0.64 for CV r = -0.54 for Ax; for K2 r = -0.67 for CV r = -0.68 for Ax). CR had a positive correlation with Ax (r = 0.74) and CV (r = 0.79). It showed a negative correlation with L (r = -0.58). CV had a high, positive correlation with Ax (r = 0.72 for the RE; r = 0.75 for the LE). The correlation with K1 and K2 was negative. Our study showed that the axial length, keratometry, corneal radius, lens thickness and vitreal body were the most important OOC that correlated with each other following a pattern in our group of emmetropes. They interacted in such a way that in the subjects with axial length above the average value, the vitreal body was longer but the lens was thinner and the cornea was of less power. This could explain at least one of the mechanisms of emmetropization.

Retrospective analysis of reconstruction techniques after periocular basalioma excision.

The paper presents our approach to reconstruction after periocular basalioma (pBCC) excision, especially of large lower lid (LL) and medial canthal (MC) pBCC. Retrospective analysis of data of 123 patients with pBCC, confirmed on histologic examination (HE), operated in period from 1998 to 2006, was performed. Oncologic safety margins of 3 mm were marked after local anesthesia was administered. Reconstruction was done in time of surgery. In pBCC away from a lid margin, adjacent myocutaneous flaps were used. For lid margin involving (LM) pBCC, size of 10 mm and less in horizontal diameter (HD), full-thickness lid excision was performed, combined with lateral canthotomy and/or Tenzel or McGregor flap. When size of LM pBCC was more than 10 mm in HD and it was on a LL, ipsilateral upper lid (UL) tarsoconjunctival (TC) graft combined with single pedicle transposition myocutaneous flap were used. The same size of LM pBCC on a UL required ipsilateral full-thickness LL "switch" flap and/or contralateral LL Hübner graft. In MC pBCC combined approach was used. The follow-up was up to 5 years. The 19 patients (15.4%) had positive tumor margin on HE. Five of them refused further surgery, but only two had recurrence. The rest of 121 patients had no recurrence during follow-up. In 5/14 patients, who underwent additional surgery, no tumor cells were found on HE. The 10/123 patients (8.1%) had complications. The imperative of our approach to reconstruction after pBCC was good functional and cosmetic result, avoiding prolonged lid closure. Accordingly, in large LL LM pBCC we used ipsilateral UL TC graft combined with single pedicle transposition myocutaneous flap. In MC pBCC combined approach was mandatory.

[Our approach in the treatment of exposed hydroxyapatite orbital implant]. / Nas pristup lijecenju dehiscencije spojnice i Tenonove ovojnice kod hidroksiapatitnog orbitalnog implanta.

PURPOSE: To present our approach in the treatment of exposed hydroxyapatite (HA) orbital implant. PATIENTS AND METHODS: Seven patients with HA orbital implant exposure presented for treatment, all primary implants, postevisceration. All patients were operated by the same surgeon. The size of implant was based on preoperative axial length measurement (ax-2 mm, subtract 1 mm for evisceration and hyperops) except for two patients with buphthalmus where 20 mm implant was used. HA implant was wraped in sclera papillar area turned anteriorly. It was pushed as far as possible into the orbit but unfortunately without using plastic drape or malleable retractors. Extraocular muscles were sutured in their anatomic position. Exposure occurred at 5-7 years of implantation. Six patients wore glass orbital prostheses, and one silicone orbital prosthesis. The size of dehiscence of conjunctiva and Tenon's capsule varied from 5 to 15 mm. A woman with 15 mm exposure presented first with 6 mm exposure. However, she declined immediate surgery and continued to wear glass epiprosthesis. She returned a year later when she could not wear epiprosthesis anymore, and the size of the defect increased to 15 mm. Two-step procedure was performed in local anesthesia. Conjunctival edges were freshened, undermined and the anterior surface of the HA implant was shaved to the depth of at least 2 mm. Tarsoconjunctival flap was tailored from the central part of the lid. Care was taken that at least four millimeters of the marginal height of the tarsal plate were kept intact to avoid lid notching. Conjunctiva was undermined superiorly to include conjunctiva and Müllers muscle into the flap. No donor sclera was available. Raw surface of the flap faced the defect. Interrupted 6-0 Vicryl sutures were put on the flap, 360 degrees around. In two patients with exposure measuring 9 and 11 mm tarsoconjunctival pedicle flap from lax lower lid was incorporated. Upper and lower lid tarsoconjunctival flaps were sutured together. Central temporary tarsorrhaphy was performed so that postoperative local antibiotic (Tobrex) could be applied through the lateral third of the palpebral opening. At four weeks, flap was divided under local anesthesia. In two patients with lower lid flaps, horizontal shortening of the lower lid for the size of the flap was perfomed. In one patient with a 15-mm defect, third surgery was required. A crescent defect starting from superonasally to inferotemporally, horizontal diameter of 4 mm, was covered with conjunctival pedicle flap, base located inferotemporally. The harvest area was covered with oral mucosa membrane graft. Follow-up varied from 2 months to 5 years. RESULTS: Two patients experienced thick mucous discharge starting two weeks after the first step of the surgery. Bacteria and fungi were not isolated. After a 10-day course of systemic antibiotics the discharge subsided and the flap had taken nicely. Two patients had granuloma prior to pedicle division, which was removed and the area healed. There was no evidence of further exposure in any patient and all were able to wear orbital epiprosthesis. CONCLUSION: Tarsoconjunctival pedicle flap is a safe procedure to cover the exposure of hydroxyapatite orbital implant. A limited size of the flap and the need of temporary tarsorrhaphy are the only disadvantages of the procedure.

[Retinopathy of prematurity--functional and structural outcome in children treated with diode laser photocoagulation]. / Retinopatija prematuriteta--funkcionalni i strukturni ishod u djece lijecene laserskom fotokoagulacijom.

AIM: To present the long-term structural and functional outcome of children treated with diode laser for retinopathy of prematurity. PATIENTS AND METHODS: A total of six premature babies (12 eyes) in whom diode laser treatment was performed for acute retinopathy were followed up. The mean birth weight was 1185.0 +/- 309.6 g and mean gestational age was 28.5 +/- 1.87 weeks. Long term follow-up (18 to 41 months) included retinal examination, refractive status of the eye, and orthoptic evaluation: strabismus, amblyopia and nystagmus assessment. RESULTS: Unfavorable structural outcome was detected in five eyes of six children (5/12 eyes, 41.7%). If only the eyes in no higher than threshold stage (3+) according to surgery records were taken in consideration (6/12 eyes), therapy resulted in favorable structural outcome in all six (100%) eyes. The mean spherical equivalent refractive error was -2.27 +/- 2.03 D (range -6.0 to +0.50 D). Profound amblyopia of one eye was found in five of six study children, and was invariably accompanied by heterotropia of the amblyopic eye: deviation in eso direction in three cases, and exodeviation and hypertropia in one case each. Nystagmus was present in four of six (66.6%) patients. All six children used vision as a dominant sense in space orientation and communication. CONCLUSION: Diode laser therapy is a successful method in stopping and reversing the clinical course of severe retinopathy of prematurity, however only if timely implemented. The availability of this treatment modality in Croatia would significantly improve the structural and functional outcome of children with retinopathy.