RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected.

Background: Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of uncertain significance (VUS), to clinical phenotype and to set the ground for objective assignment of pathogenicity confidence. Case Presentation. A case report of a female patient with LCA who manifested with nystagmus, night blindness, profound visual deficiency, and peripheral involvement of the retina consistent with RPE65 dystrophy. A thorough clinical examination, diagnostic evaluation, and genetic testing were performed. The patient was a compound heterozygote in trans form: RPE65 c.304G>T, p.(Glu102∗) pathogenic, and RPE65 c.393T>A, p.(Asn131Lys), VUS. The latter variant is absent in healthy controls and is considered harmful on in silico prediction. Conclusions: We conclude that RPE65 c.393T>A, p.(Asn131Lys) contributed to the pathologic phenotype, demonstrating its significance clearly in the case presented, and should be reclassified according to the criteria of evidence as likely pathogenic. This being the case, patients with this specific variant are likely candidates for genetic treatment.

Macular perfusion analysed by optical coherence tomography angiography after uncomplicated phacoemulsification: benefits beyond restoring vision.

BACKGROUND: The purpose of the study is to investigate the changes of macular perfusion by OCT-angiography (OCT-A) after uncomplicated phacoemulsification. METHODS: OCT-A was performed before cataract surgery, 1 week, 1 month, and 3 months after surgery recording superficial vascular complex (SVC), nerve fiber layer vascular plexus (NFLVP), superficial vascular plexus (SVP), deep vascular complex (DVC), intermediate capillary plexus (ICP) and deep capillary plexus (DCP), as well as large choroidal blood vessels and choriocapillaris (CC). Explant area (EA), vessels area (VA), vessels percentage area (VPA), total number of junctions (TNJ), junctions density (JD), total vessels length (TVL), average vessels length (AVL), total number of end points (TNEP), and mean lacunarity (ML) throughout all layers were analysed. RESULTS: Significant changes of vascular parameters in 55 eyes of 55 patients mostly reached plateau one week after surgery and remained stable up to 3 m after surgery, occurring in all retinal layers but not in choroid and CC. The greatest increase in VPA (22.79%), TVL (16.71%), AVL (166.71%) and JD (29.49%) was in SVC. On the contrary, the greatest change of ML (- 53.41%) appeared in DVC. CONCLUSIONS: This is the first OCT-A study demonstrating perfusion alterations in macula after phacoemulsification due to functional hyperaemia. We presume the effect is evoked by increased light intensity stimulation of retina after cataract removal. Accordingly, phacoemulsification in elderly population could have advantageous feature in addition to restoring visual acuity.

Periocular pilomatrixoma: case report.

The aim is to present a case of pilomatrixoma in the periocular area in a 10-year-old female through retrospective review of medical records of a single patient. A 10-year-old female developed a lesion under her right eyebrow over a period of one year. The rest of the ophthalmic history was unremarkable. On examination, oval, well-defined, subcutaneous tumor measuring 7 x 4 mm was found under the right eyebrow. It gave bluish tint under the firmly adherent overlying skin of normal color and texture. Rocky hard and non-tender, it was mobile over the underlying tissues. Total excision biopsy was performed under general anesthesia. Histopathologic analysis confirmed the diagnosis ofpilomatrixoma. Pilomatrixoma is a rare tumor with head, neck and periocular area being the commonest sites. It is often clinically misdiagnosed and/or missed on differential diagnosis. Although a benign tumor, malignant transformation into pilomatrix carcinoma has been described. Thus, total surgical excision of the mass is recommended.

Modified operative technique for involutional lower lid entropion.

The paper presents a modified operative technique for involutional lower lid entropion. The prospective noncomparative study of 101 lower eyelids of 88 patients undergoing surgery for involutional lower lid entropion was conducted in period from September 2005 until March 2012. Indication for the surgery was entropion, previously untreated, with moderate to severe horizontal lid laxity and no clinically relevant medial and lateral canthal tendon laxity. The operative technique is our modification of Quickert and Jones procedures. Photo was taken preoperatively and one month after surgery. Clinical follow-up was at 7th postoperative day, one month and six months after surgery and in case of the recurrence. Long-term follow-up was obtained via telephone interviews. There were 44 male (50%) and 44 female (50%) patients included in the study. The age of patients was in average 73.27 +/- 8.1 years (range 53-90 years). Early postoperative complication was localized lid swelling found in two patients starting 4-6 weeks postoperatively at the area of absorbable suture. It resolved spontaneously in two and three weeks respectively. There was recurrence of entropion in 11 eyelids (10.89%) of 10 patients. The mean interval between primary surgery and the recurrence was 17.45 +/- 14.84 months (range 4-48 months). In these eyelids Jones procedure was performed. However in four eyelids of four patients from the recurrent group an additional surgery needed to be performed after 6, 12, 12 and 17 months respectively. Our modification of surgical treatment for involutional lower lid entropion was effective in 89.11% of eyelids. Complications of the procedure were scarce.

Early satellite metastatic uveal melanoma to the lower eyelid--the first report.

PURPOSE: To present a unique case of an early satellite metastatic uveal melanoma to the ipsilateral lower eyelid. METHODS: Retrospective review of the medical records of a single patient. RESULTS: A 71-year-old white male developed a fast growing, painless, solitary, subcutaneous, nodular mass in the medial half of his right lower eyelid 13 months after enucleation of the right eye for inferonasally located uveal melanoma of the spindle cell type. Microscopically excised eyelid tumor proved to be malignant melanoma of the epitheloid type. The patient underwent complete systemic examination including positron emission tomography that ruled out the primary cutaneous or visceral melanoma. CONCLUSION: The paper is, according to our knowledge, the first documented case of an early satellite metastatic uveal melanoma to the lower eyelid in the patient with no evidence of further metastases.

Our approach to operative treatment of lower lid ectropion.

Ectropion is a malposition of eyelid in which the eyelid is pulled away from the globe. It is classified in the following categories: congenital and acquired, which may be involutional, paralytic, cicatricial and mechanical. Depending on the etiology and the predominant location of ectropion, a variety of surgical techniques are available for its correction. In this retrospective study, 52 eyelids in 40 patients with lower eyelid ectropion were operatively treated at our Department during the 2005-2010 period. Involutional ectropion was present in 23 (44.2%), ectropion due to cicatricial changes in 13 (25.0%) and paralytic ectropion in 16 (30.8%) cases. The method of surgical repair was dependent on the underlying etiology and the predominant location of the ectropion. Surgical procedures for involutional entropion repair included pentagonal excision, Kuhnt-Symanowski type procedure, medial wedge excision, lazy-T procedure and lateral canthal sling. Cicatricial ectropion was treated with Z-plasty, local flaps, full-thickness skin graft, or their combination. Tarsorrhaphy and other surgical techniques for support and tightening of lower eyelid were used in paralytic ectropion repair. In 80% of patients, satisfactory functional and cosmetic outcome was achieved with a single surgical procedure. Eight (20%) patients with severe ectropion needed additional surgery. Ectropion repair presents a challenge in oculoplastic surgery. Therefore, individualized surgical approach based on adequate and thorough preoperative evaluation concerning the etiology and the predominant location of the ectropion is mandatory.

Microincision aponeurotic ptosis surgery of upper lid.

The paper is a prospective study of 23 lids of 20 patients with upper lid aponeurotic ptosis operated using microincision technique in period 2005-2008. There were 7 males and 13 females. Age of the patients was 28-83 years (y), average 61 +/- 17 y, for female 63 +/- 13.4 y and for male 61 +/- 19 y. Inclusion criteria were: aponeurotic upper lid ptosis more than 2 mm, no other lid abnormalities, minimal dermatochalasis, no previous or concomitant lid surgery. The procedure was performed in local anesthesia through 10 mm cut. Aponeurosis was fixated to the tarsal plate with two sutures. Success was considered if operated lid height differed up to 0.5 mm of the other eye and margin-to-reflex distance was 2-4 mm in primary position. Postoperative results regarding contour, skin crease and lash position were good in all patients. Regarding height, 19/23 (83%) met criteria of 0.5 mm of the other eye and MRD 2-4 mm. In one bilateral procedure there was an asymmetry of 1 mm. Three patients with unilateral procedure had at least 1mm asymmetry comparing to the other eye. Reoperation was neccessary in two bilateral cases. Lid fold was symmetrical only in 7 patients (35%). The rest had slight to grose lid fold asymmetry. Complications were scarce, in early postoperative period there was hematoma in two patients lasting up to three weeks. Late failure was noticed in two cases 6 and 8 months postoperatively. Advantages are: less anesthetic results in less decreased levator function and more accurate assessment of eyelid position intraoperatively, less distortion of the lid due to less bleeding and edema, shorter operation time, less scarring and shortened recovery time. However it can be used only in selective cases.

Painless Acanthamoeba keratitis in a soft contact lens wearer--case report.

Aim of our paper is to present a case of painless Acanthamoeba keratitis in a soft contact lens wearer. A 17-year-old male, highly myopic, prolonged soft contact lens wearer, presented to us with painless red watery right eye having remarkably diminished vision. Last six weeks he was treated elsewhere for the microbial keratitis with no improvement. No pain was reported and on the direct questionnaire about it he denied it. There was marked mixed conjunctival and ciliary injection. A central stromal opacity with a pronounced surrounding corneal ring of inflammatory infiltration and epithelial defect was seen on biomicroscopy of the right eye. Circular pannus was already formed reaching epithelial defect overlying corneal ring infiltrate. Acanthamoeba spp in the corneal sample was confirmed. Prolonged therapy with 0.02% chlorhexidine digluconate solution combined with 0.1% hexamidine solution resulted in corneal healing left with a large central dense stromal opacity with circular pannus reaching peripheral third of the cornea but with very thin blood vessels and the best corrected visual acuity of 0.1 tested on Snellen chart. In conclusion, even in a lack of typical symptom for Acanthamoeba keratitis such as pain, this amoeba should be ruled out especially in a soft contact lens wearer.

Operative treatment of large periocular xanthelasma.

PURPOSE: To present our experience in operative treatment of large periocular xanthelasma. METHODS: Sixty-three patients with large periocular xanthelasma were operatively treated in our department. Ipsilateral and/or contralateral lid skin grafts harvested by blepharoplasty, alone or in combination with local flaps, were used. Forty patients (64%) had enough skin to graft the defect after primary xanthelasma removal. In 10 patients, additional local flaps were used: modified rhomboid flap in six patients, local advancement flap in two, and bi-lobed flap in two patients. In three patients (5%), a sequential approach was applied since xanthelasma were too large to be completely removed in a single-step excision. No serious complications were shown. RESULTS: Patients were followed from 6 months to 8 years. Five patients (8%) returned with recurrences 3-8 years after primary excision. CONCLUSIONS: In lack of the setting for xanthelasma laser treatment, operative approach of a single-step or sequential excision using lid skin graft combined with local flaps proved its value for large periocular xanthelasma.

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.