Eye Manifestations

Corneal opacities have been described in pathology specimens 56 . Bilateral anterior polar cataracts were seen in 1 of 42 symptomatic patients studied by Coats 16 . Fig. 13.4. The left fundus of a 6-month-old female child with congenital cytomegalovirus (demonstrating CMV retinitis). The superior vessels are sheathed Fig. 13.4. The left fundus of a 6-month-old female child with congenital cytomegalovirus (demonstrating CMV retinitis). The superior vessels are sheathed Retina....

Familial Retinal Detachment

Rhegmatogenous retinal detachment can occur in a number of inherited disorders (see Table 12.1), the most common being the Stickler syndromes due to mutations in the genes for type II and type XI collagens, constituents of both vitreous and cartilage. High myopia and retinal detachment are also seen in Marfan syndrome, Ehlers-Danlos syndrome, Smith-Magenis syndrome, Kniest syndrome and spondyloepiphy-seal dysplasia congenita. The detachments are often complex and frequently caused by giant...

Uveal Melanoma

Although uveal melanoma is generally a disease of adulthood, it is occasionally diagnosed in children 15 . It is a variably pigmented elevated mass that shows slow progression (Fig. 8.21). If it is not treated early, it has a tendency to metastasize to liver, lung, and other distant sites. Most advanced tumors are treated by enucleation. Radiotherapy of local tumor resection can be employed for less advanced tumors. Fig. 8.22 a, b. Congenital hypertrophy of the retinal pigment epithelium (RPE)....

Marfan Syndrome

Marfan syndrome is a dominantly inherited disorder of fibrillin production with a prevalence of approximately one in 20,000 and features skeletal, cardiovascular and ocular abnormalities. The fibrillins are high-molecular-weight extracellular glycoproteins, and mutations in the fibrillin gene on chromosome 15 (FBN1) cause Marfan syndrome and dominant ectopia lentis. Fibrillin has been found to be widespread in lens capsule, zonules, iris, ciliary body, choroid and sclera 45 . In a study to...

Retinal Cavernous Hemangioma

The retinal cavernous hemangioma typically appears as a globular or sessile intraretinal lesion that is composed of multiple vascular channels that have a reddish-blue color 29 . It may show patches of gray-white fibrous tissue on the surface, but it does not cause the exudation that characterizes the retinal capillary hemangioma. Cavernous hemangioma is a congenital retinal vascular hamartoma that is probably present at birth. This tumor can be associated with similar intracranial and...

B

Baerveldt implant 102 Band keratopathy 106 Bardet-Biedl (BBS) 140,158 Batten disease 145 - infantile 158 Battered child 219 Berson plates 185 Bestrophin 148 Beta-blocker, topical 101 Binocular correspondence, abnormal 43 - extremely low see ELBW Bleb 104 Blepharoptosis 116 Blepharospasm 96 Blindness 511 - uniocular, cause 32 Blunt trauma 192 Blur sensitivity 15 Bone-spicule pigmentation 157 BPD (bronchopulmonary dysplasia) 56 Bradycardia 101 Brain contusion 223 Brimonidine 95, 101 Brinzolamide...

Tonometry

It is important to consider that normal intraocular pressure (IOP) in children ranges from 9-12 mmHg under general anesthesia. IOP measurements of 16-18 mm Hg under general anesthesia already require cautious interpretation. Intraocular pressure measurement in children under general anesthesia should not be performed in the initial phase but during deep anesthesia, in order to avoid the massive fluctuations occurring in the initial phase of general anesthesia 26 . Several studies have...

Nonorganic Visual Loss

The VEP, combined with other electrophysiological tests, is crucial to the diagnosis of nonorgan-ic visual loss. Electrophysiological testing may demonstrate normal function in the presence of symptoms that suggest otherwise or may quantify the level of genuine dysfunction in the presence of functional overlay. Flash VEPs in nonor-ganic visual loss are normal 33, 51 . A well-formed pattern reversal VEP is incompatible with a visual acuity of approximately 6 36 or worse 32 . The pattern onset or...

S

Sarcoma, granulocytic (chloroma) 128 SBS (shaken baby syndrome) 222 Schwannoma 116 Sclera 5 Scleritis, posterior 202 Screening see vision screening SEDC (spondyloepiphyseal displasia congenita) 197 Seizure 147,212 Senior-Loken syndrome 158 Sensitive period of visual development 37 Sensitivity 19 - contrast 41 Sensory deprivation 39 Sexual abuse 226 Shaken baby syndrome (SBS) 222 Shaken impact syndrome 222 Skiascopy 96 Smith-Magenis 194 Snellen-based acuity measurement see visual acuity...

Clinical Features and Electrophysiology

A stationary XL cone dysfunction syndrome has been described consisting of moderate to high myopia, astigmatism, moderately reduced acuity (6 12 to 6 36), dichromacy (deuterano-pia or protanopia), normal or myopic fundi (Fig. 11.2) and abnormal cone ERGs but normal rod responses 16,26,45 . Nystagmus is not observed in affected subjects. This disorder was first reported in a large five-generation Danish family that had its origins on the Danish island of Bornholm. The syndrome was therefore...

Info

Schloff S, Mullaney P, Armstrong D et al (2002) Retinal findings in children with intracranial hemorrhage. Ophthalmology 109 1472-1276 28. Sheridan M (2003) The deceit continues an updated literature review of Munchausen syndrome by proxy. Child Abuse Negl 27 431-451 29. Starling S, Patel S, Burke B, Sirotnak A, Stronks S, Rosquist P (2004) Analysis of perpetrator admissions to inflicted traumatic brain injury in children. Arch Pediatr Adolesc Med 158 454-458 30. Taich A, Crowe S, Kosmorsky...

Intraocular Lenses

IOLs are now the standard optical treatment for older children with aphakia, but their use during infancy is still controversial because of concerns regarding their safety in a growing eye with an anticipated large myopic shift. However, a growing body of literature describes favorable Fig. 6.3. The difference in grating visual acuity (LogMAR) between the affected and unaffected eyes according to treatment group. The line labeled 2 SD is 2 standard deviations beyond the mean normal for...

Rationale for the Evolution of ROP

A rationale for the evolution of ROP has emerged based on this new understanding of the roles of VEGF and IGF-I in both phases of ROP. Blood vessel growth is dependent on both IGF-I and VEGF. In premature infants, the absence of IGF-I (normally provided by the placenta and the amniotic fluid) inhibits blood vessel growth. As the eye matures, it becomes oxygen-starved, sending signals to increase VEGF. As the infant's organs and systems then continue to mature, IGF-I levels rise again, suddenly...

Digital Photography

The RetCami20, a digital retinal wide-field imaging system, has been used for several years to image the retina of premature infants and detect ROP (Fig. 5.5) 43, 45, 46, 53 . It can document large parts of the retina within minutes. Just as with conventional screening, it is advisable to have a nursing staff member present during the examination to assist in physically restraining the infant, and to monitor the in fant's vital signs and airway. Good mydriasis is crucial, just as with BIO. With...

Clinical Studies Low IGF1 Is Associated with Degree of ROP

The degree of Phase I determines the degree of Phase II, the later destructive phase of ROP. Normal vessel development in the retina precludes the development of proliferative ROP. Because ROP is initiated by abnormal postnatal retinal development, we hypothesized that prolonged low IGF-I in premature infants might be a risk factor for ROP. We conducted a prospective, longitudinal study measuring serum IGF-I concentrations weekly in 84 premature infants from birth (postmenstrual ages 24-32...

Ocular Coloboma

Eyes with ocular colobomas are at a significantly increased risk of detachment and account for approximately 0.5 of paediatric retinal detachments 25 . Giant retinal tears are seen in association with lens colobomas 19 and rheg-matogenous detachment may develop in eyes with choroidal coloboma, when small retinal breaks may be found in the hypoplastic retina overlying the coloboma. Assessment of vision can be difficult and the diagnosis of detachment can be further impaired by nystagmus,...

Optimal Age for Infantile Cataract Surgery

The optimal age to perform cataract surgery in an infant with an infantile cataract remains controversial. As recently as the 1970s, it was recommended that surgery be deferred until an infant was 3-6 months of age 39 . However, following the pioneering work of Wiesel and Hubel 45 on the plasticity of the visual system during infancy, the trend shifted toward performing cataract surgery at younger and younger ages. The trend climaxed in a case report of a newborn undergoing cataract surgery on...

Familial Exudative Vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a bilateral, clinically and genetically heterogeneous condition that is characterized by a failure of peripheral retinal vascularisation. It has a remarkable similarity to retinopathy of prematurity but occurs in full-term infants who are otherwise healthy and have not been treated with oxygen in the neonatal period. The changes may be mild with a peripheral retinal avascular zone, detectable with certainty only by fluorescein angiography, or may...

Clinical Signs of Childhood Ocular Tumors

The clinical characteristics of childhood ocular tumors vary with whether the tumor is located in the eyelids, conjunctiva, intraocular tissues, or the orbit. Eyelid and conjunctival tumors are generally quite evident, prompting an early visit to a physician. Since most tumors in the ocular area have characteristic features, an accurate diagnosis of eyelid and conjunctival tumors can usually be made with inspection alone. Therefore, additional diagnostic studies are often unnecessary. Unlike...

Physical Abuse

Any physical injury to the eye could be caused by abuse. The key to making a diagnosis of physical abuse lies in recognizing patterns of injury that are not consistent with a given history from the caretakers. Likewise, certain ophthalmic findings indicate trauma (e.g., avulsion of the vitreous base, commotio retinae, ruptured globe) and in the absence of a history of trauma, should raise a suspicion of abuse. Other concerning red flags include a history which is changed each time it is...

Genotype Phenotype Correlations

In humans with CRB1 mutations, retinal thickness as measured by OCT is significantly increased (1.5 times thicker), with a coarse lamination pattern 54 . (Fig. 10.8). In the original description 79 , two fairly consistent pheno-typic features were described the presence of Fig. 10.8. Optical coherence tomography scan Zeiss OCT-3 (Zeiss Humphrey, Dublin, CA), 15-year-old Caucasian male with homozygous C948Y mutation in CRB1 showing thickened retinal appearance Fig. 10.8. Optical coherence...

Sexual Abuse

Sexual abuse of a child is very different from the violent isolated acts of adult rape. Rather, children become victims to chronic secretive abuse which may range from inappropriate touching to anal or vaginal penetration. Rarely, children may be victims of child pornography. Both victim and perpetrator may be either male or female although most commonly the victim is female and the perpetrator male. The perpetrator of child sexual abuse is often known to the child and in a position of...

Leukemia

Childhood leukemias can occasionally exhibit tumor infiltration in the retina, optic disc, and uveal tract. It is characterized by a swollen optic disc and thickening of the retina and choroid, often with hemorrhage and secondary retinal detachment. Intraocular leukemic infiltrates are generally responsive to irradiation and chemotherapy, but they generally portend a poor systemic prognosis. Retinoblastoma is a highly malignant Most children with unilateral retinoblas- Most children with...

Retinitis Pigmentosa Rod Cone Dystrophy

Retinitis pigmentosa (RP) is a heterogeneous group of disorders characterised by progressive dysfunction affecting the rod more than the cone photoreceptors (a rod-cone dystrophy). Typically patients present with night blindness and visual field constriction. Central vision may or may not be involved. Classical signs include bone-spicule pigmentation, vessel attenuation and disc pallor, but the fundus may be normal in the early stages of disease, and this is often the case in young children....

Shaken Baby Syndrome

Shaken baby syndrome (SBS) is a form of child physical abuse in which a perpetrator subjects a child to repeated acceleration-deceleration forces with or without impact of the head. Alternate terminology has been suggested, including shaken impact syndrome, abusive head trauma, and inflicted neurotrauma. Herein, the term SBS will be used, understanding that the classic shaking, for example when a perpetrator grasps a child by the thorax, is but one way in which abuse can cause the findings. But...

Postoperative Complications

Uveal Prolapse

Retinal detachment in buphthalmic eyes following trabeculotomy has been reported with a frequency of 3 over a mean follow-up period of 9 years 31 . This demonstrates the general susceptibility to retinal tears in the stretched and highly myopic buphthalmic eye rather than a special postoperative risk of any one surgical method. Even after goniotomy, Rice 46 reported several cases of retinal detachment with congenital glaucoma. Long-standing postoperative hypotony may sometimes lead to retinal...

Cone and Cone Rod Dystrophy

Patients with cone or cone-rod dystrophy typically present with progressive impairment of central vision, abnormalities of colour vision, photophobia and often nystagmus 78 , although there are exceptions 21 . There is wide pheno-typic variability and although the fundus may initially appear normal, abnormalities can include peripheral hypopigmentation and or pigment clumping, disc pallor, macular atrophic changes or bull's eye maculopathy. Interestingly, a recent prospective study identified...

Tulp1

The gene (TULP1) encoding the Tubby like protein 1 on 6p2i.3 is part of a family of tubby genes (tub, tubby 1-3). TULP1 was identified as a cause of an autosomal recessive retinal degeneration in several isolated families 43, 46 and large pedigrees living in the Dominican Republic 9 . Several mutations in the TULP1 gene are associ autofluorescence AF is clearly present in both eyes. Right eye is shown. b Patient MT at 10 years of age. Limited cooperation due to photophobia and nystagmus...

Summary for the Clinician

Pattern and flash VEPs and pattern ERGs from a normal subject (N) and from right and left eyes of a 9-year-old patient with dominant optic atrophy. Pattern VEPs are abnormal, PERG N95 P50 amplitude ratio is reduced and P50 is of shortened implicit time, consistent with ganglion cell disease (see text for details) Fig. 9.7. Pattern and flash VEPs and pattern ERGs from a normal subject (N) and from right and left eyes of a 9-year-old patient with dominant optic atrophy. Pattern VEPs are...

Nontraumatic Retinal Dialysis

Kathy Buckli

Nontraumatic retinal dialysis (Fig. 12.2) accounts for approximately 10 of all juvenile retinal detachment 17,43 . The male-to-female ratio is 3 2 43 and the majority of patients are hypermetropic or emmetropic 17,33,36 . In 97 of cases, the dialysis affects the inferotemporal quadrant but multiple dialyses occur in one-third and 37 may be bilateral 43 . Detachments associated with dialyses progress slowly, have a low incidence of PVR and characteristically present either as an incidental...

Congenital Stationary Night Blindness

Most forms of CSNB manifest an ERG maximal response with a normal a-wave and selective b-wave reduction, a negative or electronegative ERG, consistent with abnormalities that are post-phototransduction. It is usually best seen in the scotopic rod-dominated maximal ERG, although it may also occur in cone-mediated ERGs under photopic conditions 46,65 . Rare forms of CSNB manifest ERG maximal response a-wave reduction consistent with disruption of rod pho-toreceptor dysfunction and are reviewed...

Corneal Opacifications

Much attention is focused on the cornea in the diagnosis of congenital glaucoma. There are several typical signs that can be observed such as a stretched superior limbal region (Fig. 7.3), tears in the Descemet membrane, the so-called Haab striae (Fig. 7.4), and corneal opacifications (Fig. 7.5). Corneal opacities are frequent in infantile glaucoma, occurring in up to 75 of glaucomatous eyes 17 . Corneal clouding as an isolated ocular symptom (without Haab striae and limbal stretching) in...

Blunt Ocular Trauma

Retinal detachment due to blunt trauma is almost always rhegmatogenous and most commonly caused by a disinsertion at the ora serra- ta (dialysis) (Fig. 12.1A), usually occurring in older children. Bilateral retinal detachment due to traumatic dialysis has been described as a rare presenting feature of nonaccidental injury 14 . Sudden antero-posterior compression associated with a corresponding coronal expansion typically causes avulsion of the pars plana epithelium, which can be seen as a...

Trabeculotomy Combined with Trabeculectomy

Trabeculectomy has been combined with tra-beculotomy as a primary intervention achieving comparable or better success rates to tra-beculotomy alone. In the difficult group of very young patients undergoing glaucoma surgery within the 1st month of life, an Indian retrospective study revealed success rates of 89 after iyear and 72 after 3 years for the combined trabeculoto-my-trabeculectomy approach. No essential intra- and postoperative complications were seen in any patient though...

Type 1 Stickler Syndrome

Stickler initially described a family with a dom-inantly inherited pattern of high myopia, a high incidence of retinal detachment and abnormal epiphyseal development with premature degenerative changes in various joints. Subsequent analysis of this and other families linked the disorder to COL2A1, the gene for type II col Fig. 12.3. a Type 1 (membranous) vitreous anomaly (arrow) seen in type 1 Stickler syndrome. b Giant retinal tear with radial extensions. c Total retinal detachment due to 360...

Stargardt Macular Dystrophy Fundus Flavimaculatus

Stargardt macular dystrophy-fundus flavimaculatus (S-FFM) is an autosomal recessive disorder consequent upon mutation in ABCA4 1 . Patients often present in adolescence with progressive visual acuity reduction. On examination, there is usually macular atrophy and associated white flecks at the level of the retinal pigment epithelium. In children with S-FFM, there may be significant visual loss before there is significant fundus change, and it is in these cases where electrophysiological testing...

Congenital Ocular Melanocytosis

Melanocytosis

Ocular melanocytosis. a Heterochromia with light brown right iris and dark brown left iris. b Episcleral melanocytosis Fig. 8.11 a, b. Ocular melanocytosis. a Heterochromia with light brown right iris and dark brown left iris. b Episcleral melanocytosis Although it is not strictly in the conjunctiva, congenital ocular melanocytosis is included here because it is an important epibulbar lesion of childhood. It is a congenital diffuse, patchy epibulbar pigmentation that is situated...

Mouse Model of ROP

To study the molecular pathways in retinal vascular development and in the development of ROP, we developed a mouse model of the disease to take advantage of the genetic manipulations possible in the murine system 67 . The eyes of animals such as mice, rats and cats - though born full term - are incompletely vascularized at birth and are similar to the retinal vascular development of premature infants. When these neonatal animals are exposed to hyperoxia there is induced loss of some vessels...